THE PURSER WELLNESS REFERENCE
Your genes. More context.
Understand the names on a report, make useful connections, and keep learning at your own pace.
145 entries
ACE
ACE is the gene name for Angiotensin-Converting Enzyme. Learn what a specific result could mean and what to ask about it.
Gene & pathway referenceACTN3
ACTN3 is the gene name for Alpha-Actinin-3. Learn what a specific result could mean and what to ask about it.
Gene & pathway referenceADIPOQ
ADIPOQ encodes adiponectin, a hormone released by fat tissue that participates in insulin sensitivity and fat metabolism. Its name often appears in discussions of triglycerides, body composition and metabolic health.
Gene & pathway referenceADRB2
ADRB2 is the gene name for Beta-2 Adrenergic Receptor. Learn what a specific result could mean and what to ask about it.
Gene & pathway referenceAHCY
The genetic-architecture chapter explains that S-adenosylmethionine (SAM) donates methyl groups and becomes S-adenosylhomocysteine (SAH).
Gene & pathway referenceALPL
ALPL encodes tissue-nonspecific alkaline phosphatase, an enzyme important to bone and tooth mineralization and vitamin B6 metabolism. Persistently low alkaline phosphatase can deserve a different evaluation from a general nutrient deficiency.
Gene & pathway referenceAOC1
Encodes diamine oxidase, an enzyme involved in breaking down histamine and other amines. DAO is used here as an enzyme nickname; it is also the official symbol of a different gene.
Gene & pathway referenceAPOE
APOE encodes a protein that carries lipids between cells. The familiar APOE e2, e3 and e4 groupings depend on the combination of rs429358 and rs7412, not on either marker read in isolation.
Gene & pathway referenceATG16L1
ATG16L1 is involved in autophagy, a process that helps cells recycle parts.
Gene & pathway referenceBCO1
BCO1, also called BCMO1, helps convert beta-carotene from plant foods into retinal, a form used in vitamin A metabolism. Plant carotenoids and preformed vitamin A therefore enter the pathway at different points.
Gene & pathway referenceBHMT
BHMT helps recycle homocysteine into methionine using betaine. It is a different route from the folate and B12 pathway.
Gene & pathway referenceBRCA1
BRCA1 helps repair damaged DNA. Clinically classified pathogenic variants can affect inherited cancer risk; a common SNP or a variant of uncertain significance is a different finding.
Gene & pathway referenceBRCA2
BRCA2 helps repair damaged DNA. Clinically classified pathogenic variants can affect inherited cancer risk; a common SNP or a variant of uncertain significance is a different finding.
Gene & pathway referenceC3
C3 is the gene name for Complement C3. Learn what a specific result could mean and what to ask about it.
Gene & pathway referenceCBS
CBS helps move homocysteine into the pathway that supplies building blocks for glutathione.
Gene & pathway referenceCCL11
CCL11 encodes eotaxin-1, a chemokine best known for attracting eosinophils. Its receptor relationships connect it to allergic inflammation as well as broader research into immune signaling.
Gene & pathway referenceCCL2
CCL2 encodes MCP-1, a chemokine that attracts monocytes toward sites of immune activity. Recruitment is a different task from the cytokines that activate those cells once they arrive.
Gene & pathway referenceCCL3
CCL3 encodes MIP-1 alpha, a chemokine involved in attracting and activating immune cells. It is related to CCL4, or MIP-1 beta, but the two genes and proteins are distinct.
Gene & pathway referenceCCL4
CCL4 encodes MIP-1 beta, a chemokine involved in attracting immune cells. It participates in a recruitment network that includes CCL2, CXCL8 and related chemokines.
Gene & pathway referenceCCL5
CCL5, also called RANTES, is a chemokine that helps direct immune-cell movement. Chemokines tell cells where to go, which is different from measuring the total strength of an immune response.
Gene & pathway referenceCCR3
CCR3 is the gene name for C-C Motif Chemokine Receptor 3. Learn what a specific result could mean and what to ask about it.
Gene & pathway referenceCD14
CD14 helps immune cells recognize microbial components, including bacterial lipopolysaccharide, as part of innate immune signaling. This places it upstream of some cytokine responses.
Gene & pathway referenceCD40
CD40 encodes a receptor that participates in communication between immune cells, including T-cell help for B-cell responses. Its partner is CD40 ligand, encoded by CD40LG.
Gene & pathway referenceCD40LG
CD40LG encodes CD40 ligand, which binds CD40 and supports communication needed for effective antibody responses. It is on the X chromosome, which changes how some genetic results must be interpreted.
Gene & pathway referenceCETP
CETP transfers cholesteryl esters between lipoprotein particles. This helps explain why the balance of HDL and other lipid particles is more complex than a single cholesterol number.
Gene & pathway referenceCHDH
CHDH helps convert choline toward betaine, a nutrient involved in the homocysteine pathway.
Gene & pathway referenceCLOCK
CLOCK is the gene name for Circadian Locomotor Output Cycles Kaput. Learn what a specific result could mean and what to ask about it.
Gene & pathway referenceCOL5A1
COL5A1 encodes one component of type V collagen, which helps organize collagen fibers. It connects to the strength and structure of tendons, skin and other connective tissues.
Gene & pathway referenceCOMT
Makes an enzyme that helps break down catechol compounds, including some neurotransmitters. A common variant does not by itself explain mood, attention or stress tolerance.
Gene & pathway referenceCTH
CTH helps make cysteine, one of the building blocks your body uses to make glutathione.
Gene & pathway referenceCUBN
Encodes cubilin, part of a receptor system involved in uptake of the intrinsic-factor–B12 complex.
Gene & pathway referenceCXCL13
CXCL13 is a chemokine that attracts cells expressing CXCR5, including B cells. This pairing helps organize immune-cell traffic in lymphoid tissues and some chronic inflammatory settings.
Gene & pathway referenceCXCL8
CXCL8 is the gene for IL-8, a chemokine involved in recruiting and activating neutrophils. IL-8 is the protein nickname; CXCL8 is the gene name a DNA report may use.
Gene & pathway referenceCXCR5
CXCR5 encodes the receptor for CXCL13. This receptor helps guide B cells and certain T cells toward locations where organized immune responses develop.
Gene & pathway referenceCYP19A1
CYP19A1 is the gene name for Cytochrome P450 Family 19 Subfamily A Member 1. Learn what a specific result could mean and what to ask about it.
Gene & pathway referenceCYP1A2
CYP1A2 is the gene name for Cytochrome P450 Family 1 Subfamily A Member 2. Learn what a specific result could mean and what to ask about it.
Gene & pathway referenceCYP1B1
CYP1B1 is the gene name for Cytochrome P450 Family 1 Subfamily B Member 1. Learn what a specific result could mean and what to ask about it.
Gene & pathway referenceCYP27B1
CYP27B1 is the gene name for Cytochrome P450 Family 27 Subfamily B Member 1. Learn what a specific result could mean and what to ask about it.
Gene & pathway referenceCYP2D6
CYP2D6 is the gene name for Cytochrome P450 Family 2 Subfamily D Member 6. Learn what a specific result could mean and what to ask about it.
Gene & pathway referenceDAOA
The older Purser genetics reference uses the heading “DAOA (AOC1)” in its gut section.
Gene & pathway referenceDDAH1
DDAH1 encodes an enzyme that breaks down asymmetric dimethylarginine, or ADMA. ADMA inhibits nitric oxide synthase; DDAH1 is part of its clearance system, not the inhibitor itself.
Gene & pathway referenceDHFR
DHFR helps reduce folic acid and dihydrofolate to tetrahydrofolate-related forms used in cellular metabolism. This is one part of the folate system, distinct from MTHFR and folate transport into cells.
Gene & pathway referenceDIO1
DIO1 is the gene name for Deiodinase, Iodothyronine Type I. Learn what a specific result could mean and what to ask about it.
Gene & pathway referenceESR1
ESR1 encodes estrogen receptor alpha, which helps cells respond to estrogen. Receptor signaling is different from the amount of estrogen measured in blood.
Gene & pathway referenceESR2
ESR2 is the gene name for Estrogen Receptor 2. Learn what a specific result could mean and what to ask about it.
Gene & pathway referenceF5
F5 encodes coagulation factor V. The well-characterized Factor V Leiden variant, rs6025, can make factor V less responsive to an anticoagulant control mechanism, increasing susceptibility to venous clots. It does not mean the body cannot make factor V.
Gene & pathway referenceF9
F9 encodes coagulation factor IX. Disease-causing variants can result in hemophilia B, an inherited bleeding disorder, but a panel marker is not equivalent to a confirmed disease-causing finding.
Gene & pathway referenceFADS1
Encodes an enzyme involved in fatty-acid metabolism.
Gene & pathway referenceFADS2
Encodes an enzyme involved in fatty-acid metabolism.
Gene & pathway referenceFOLH1
FOLH1 helps break down folate from food so it can be absorbed. This is different from the MTHFR step.
Gene & pathway referenceFOLR1
FOLR1 encodes folate receptor alpha, which helps cells take up folate and has an important role in folate transport at the brain’s barriers. Blood folate and folate availability in the nervous system are not identical measurements.
Gene & pathway referenceFOLR2
FOLR2 encodes folate receptor beta, a folate-binding protein expressed in particular cell types, including subsets of immune cells. It is distinct from the FOLR1 receptor and the SLC19A1 reduced folate carrier.
Gene & pathway referenceFOLR3
FOLR3 is the gene name for Folate Receptor 3. Learn what a specific result could mean and what to ask about it.
Gene & pathway referenceFTO
FTO is studied in relation to body weight and energy balance. Common variants can contribute to population-level differences in obesity susceptibility, alongside many other genes and environmental factors.
Gene & pathway referenceFUT2
FUT2 affects substances on the surfaces of the gut and other moist tissues and is studied in relation to the microbiome.
Gene & pathway referenceG6PC2
G6PC2 encodes a glucose-6-phosphatase-related protein expressed in pancreatic islet cells. Common variation is associated with differences in fasting glucose regulation; it is not the insulin receptor.
Gene & pathway referenceGABPA
GABPA helps control how other genes are used. Older materials may also use the label GABP1.
Gene & pathway referenceGAD1
GAD1 helps your body make GABA, a chemical messenger, from glutamate.
Gene & pathway referenceGAD2
GAD2 helps make GABA, a chemical messenger, from glutamate.
Gene & pathway referenceGCLC
GCLC helps make glutathione, an antioxidant your body produces.
Gene & pathway referenceGCLM
GCLM helps regulate one of the steps your body uses to make glutathione.
Gene & pathway referenceGDF5
GDF5 encodes growth differentiation factor 5, a signaling protein involved in skeletal development, joint formation and cartilage biology. Its name does not mean a SNP measures the ability to build muscle.
Gene & pathway referenceGGH
GGH encodes gamma-glutamyl hydrolase, which removes glutamate residues from folate compounds. This affects folate handling and helps explain why folate metabolism includes retention and processing as well as intake.
Gene & pathway referenceGPX1
GPX1 helps cells use glutathione to handle peroxides.
Gene & pathway referenceGPX3
GPX3 helps use glutathione in peroxide defense outside cells.
Gene & pathway referenceGPX4
GPX4 helps protect cell membranes from certain peroxides.
Gene & pathway referenceGSR
GSR encodes glutathione reductase. It uses reducing power from NADPH to help convert oxidized glutathione back to reduced glutathione, allowing this antioxidant system to be reused.
Gene & pathway referenceGSTM1
GSTM1 helps your body use glutathione to process some compounds.
Gene & pathway referenceGSTO1
GSTO1 belongs to the omega family of glutathione S-transferases. These enzymes participate in redox chemistry, with roles that differ from the better-known GSTM1 and GSTP1 pathways.
Gene & pathway referenceGSTO2
GSTO2 encodes glutathione S-transferase omega 2, a redox enzyme with dehydroascorbate reductase activity that connects glutathione chemistry with vitamin C recycling. It is a separate gene from GSTO1.
Gene & pathway referenceGSTP1
GSTP1 helps your body use glutathione to process some compounds.
Gene & pathway referenceGSTT1
GSTT1 helps your body use glutathione to process some compounds.
Gene & pathway referenceHDC
HDC is the gene name for Histidine Decarboxylase. Learn what a specific result could mean and what to ask about it.
Gene & pathway referenceHFE
HFE helps regulate iron absorption through signaling that influences hepcidin. The commonly discussed C282Y and H63D variants correspond to rs1800562 and rs1799945. Their implications depend on the combination present and clinical findings.
Gene & pathway referenceHLA-DQA1
HLA-DQA1 contributes to an HLA-DQ protein that presents antigen fragments to CD4 T cells. HLA-DQ function depends on pairing with an HLA-DQB chain, so an isolated marker is not a complete HLA type.
Gene & pathway referenceHLA-DQA2
HLA-DQA2 is part of the HLA class II region involved in immune recognition. It should not be treated as interchangeable with HLA-DQA1 or as a measurement of how well the immune system fights infections.
Gene & pathway referenceHLA-DR region
Refers to part of the HLA immune-recognition region, rather than one gene. HLA typing requires more detail than a broad region label.
Gene & pathway referenceHMGB1
HMGB1 normally has functions inside the cell nucleus. When released outside cells in particular settings, it can act as a damage-associated molecular pattern, or DAMP, participating in inflammatory signaling.
Gene & pathway referenceHRH1
HRH1 is the gene name for Histamine Receptor H1. Learn what a specific result could mean and what to ask about it.
Gene & pathway referenceHRH2
HRH2 is the gene name for Histamine Receptor H2. Learn what a specific result could mean and what to ask about it.
Gene & pathway referenceIFNG
IFNG encodes interferon gamma, a cytokine involved in cellular immune defense and activation of macrophages. It differs from the Th2 signals more often emphasized in allergic responses.
Gene & pathway referenceIL10
IL10 encodes interleukin-10, a cytokine that can limit inflammatory responses and help prevent excessive immune-mediated tissue damage. Immune balance includes resolving a response as well as starting one.
Gene & pathway referenceIL12B
IL12B encodes the p40 subunit shared by IL-12 and IL-23. This makes it an intersection between immune pathways rather than a stand-alone measure of one cytokine.
Gene & pathway referenceIL13
IL13 encodes interleukin-13, a cytokine involved in Th2 immune responses, mucus-related processes and tissue remodeling. It overlaps with some IL-4 functions but is not the same signal.
Gene & pathway referenceIL15
IL15 encodes a cytokine involved in the survival and activity of immune cells, including natural killer cells and memory CD8 T cells. Its receptor system includes IL15RA.
Gene & pathway referenceIL15RA
IL15RA encodes the alpha receptor component for IL-15. It helps present IL-15 to responding immune cells, supporting communication that is important for particular lymphocyte populations.
Gene & pathway referenceIL16
IL16 encodes interleukin-16, a cytokine involved in attracting and influencing immune cells, including CD4-expressing cells. Its recruitment role helps separate it from other numbered interleukins.
Gene & pathway referenceIL17A
IL17A encodes interleukin-17A, a cytokine involved in defense at tissue barriers and inflammatory signaling. It belongs to the Th17 pathway, which is supported by signals including IL-23.
Gene & pathway referenceIL18
IL18 encodes interleukin-18, a cytokine that can promote interferon-gamma responses in the appropriate immune context. Its receptor includes components encoded by IL18R1 and IL18RAP.
Gene & pathway referenceIL18R1
IL18R1 encodes a component of the receptor for IL-18. It works with an accessory component, IL18RAP, to support IL-18 signaling.
Gene & pathway referenceIL18RAP
IL18RAP encodes an accessory protein in the IL-18 receptor complex. The receptor needs coordinated components to translate an extracellular signal into a cellular response.
Gene & pathway referenceIL1B
IL1B encodes interleukin-1 beta, a cytokine involved in inflammatory responses and fever. Its production and activation are regulated processes, not simply an on/off consequence of having a common SNP.
Gene & pathway referenceIL21
IL21 encodes a cytokine involved in regulating lymphocytes, including B-cell responses. It sits within an immune network that connects T-cell help, antibody responses and inflammatory activity.
Gene & pathway referenceIL22
IL22 encodes a cytokine that acts on tissues such as epithelial barriers. It can support barrier defense and repair, while its effects depend on the tissue and inflammatory setting.
Gene & pathway referenceIL23A
IL23A encodes the p19 subunit of interleukin-23. Together with the p40 subunit encoded by IL12B, it forms a cytokine involved in supporting Th17 responses.
Gene & pathway referenceIL23R
IL23R encodes part of the receptor that receives IL-23 signals. This connects the gene to the maintenance of Th17-related immune responses, which differ from the Th2 patterns discussed in allergy.
Gene & pathway referenceIL2RA
IL2RA encodes the alpha chain of the interleukin-2 receptor, also called CD25. It is involved in immune activation and regulatory T-cell biology; a soluble receptor measurement is distinct from a DNA result.
Gene & pathway referenceIL33
IL33 encodes interleukin-33, a signal that can act as an alarmin during tissue stress and promote type 2 immune responses. It belongs in a different functional group from chemokines that recruit cells.
Gene & pathway referenceIL4
IL4 encodes interleukin-4, a cytokine involved in Th2 immune responses and antibody class switching, including pathways related to IgE. It operates alongside IL-5 and IL-13 rather than representing all allergic biology by itself.
Gene & pathway referenceIL5
IL5 encodes interleukin-5, a cytokine important to eosinophil growth, survival and activation. Eosinophils are involved in selected allergic and other inflammatory conditions.
Gene & pathway referenceIL6
IL6 encodes interleukin-6, a cytokine involved in immune responses and acute-phase signaling. It can appear in discussions of infection, chronic inflammation and metabolic health, with effects that depend on the context.
Gene & pathway referenceIL6R
IL6R encodes the interleukin-6 receptor. Membrane-bound and soluble receptor pathways help explain why IL-6 biology involves more than the amount of cytokine in a single blood sample.
Gene & pathway referenceITGB2
ITGB2 is the gene name for Integrin Subunit Beta 2. Learn what a specific result could mean and what to ask about it.
Gene & pathway referenceKCTD10
KCTD10 is the gene name for Potassium Channel Tetramerization Domain Containing 10. Learn what a specific result could mean and what to ask about it.
Gene & pathway referenceKIT
KIT encodes a receptor tyrosine kinase that responds to stem cell factor. It participates in blood-cell development and mast-cell biology, making the exact variant and testing context especially important.
Gene & pathway referenceMAOA
MAOA helps break down some chemical messengers. A gene result cannot predict a mood or behavior.
Gene & pathway referenceMAOB
MAOB encodes monoamine oxidase B, an enzyme involved in breaking down monoamine compounds, including dopamine. It does not simply build dopamine, and a DNA marker is not a neurotransmitter measurement.
Gene & pathway referenceMMP3
MMP3 encodes matrix metalloproteinase 3, an enzyme involved in breaking down components of the extracellular matrix. Controlled remodeling is part of repair, while excess activity can accompany inflammatory tissue damage.
Gene & pathway referenceMTHFD1
MTHFD1 helps move folate between forms used for different jobs in the body.
Gene & pathway referenceMTHFD1L
The homocysteine chapters include MTHFD1L in the wider folate-related genetic map.
Gene & pathway referenceMTHFR
Makes an enzyme that helps produce a form of folate used in the processing of homocysteine. Common variants are different from rare variants that cause severe MTHFR deficiency.
Gene & pathway referenceMTHFS
MTHFS encodes an enzyme that converts 5-formyltetrahydrofolate into 5,10-methenyltetrahydrofolate. This places it in folate interconversion; it is not another name for MTHFR or a direct maker of methylfolate.
Gene & pathway referenceMTR
Makes the methionine synthase enzyme, which uses vitamin B12 in the conversion of homocysteine to methionine.
Gene & pathway referenceMTRR
Helps maintain the activity of methionine synthase, connecting B12-related chemistry with homocysteine metabolism.
Gene & pathway referenceNAT2
NAT2 encodes N-acetyltransferase 2, which helps process certain drugs and other compounds. Combinations of variants can influence acetylation status; one SNP usually does not tell the entire story.
Gene & pathway referenceNOS3
NOS3 encodes endothelial nitric oxide synthase, which helps blood vessels generate nitric oxide, a signal involved in vascular relaxation. This pathway is distinct from a blood pressure measurement or a diagnosis of vascular disease.
Gene & pathway referenceNQO1
NQO1 is the gene name for NAD(P)H Quinone Oxidoreductase 1. Learn what a specific result could mean and what to ask about it.
Gene & pathway referenceNR3C1
NR3C1 encodes the glucocorticoid receptor, which helps tissues respond to cortisol and glucocorticoid medicines. Receptor genetics and measured cortisol levels answer different questions.
Gene & pathway referenceNR3C2
NR3C2 encodes the mineralocorticoid receptor, which responds to hormones such as aldosterone and helps regulate salt and fluid balance. It is distinct from the NR3C1 glucocorticoid receptor.
Gene & pathway referenceNTRK2
NTRK2 encodes TrkB, a receptor involved in responding to neurotrophic signals such as BDNF. These signals support nervous-system function and plasticity. NTRK2 is not a phosphatidylserine absorption transporter.
Gene & pathway referencePEMT
Makes an enzyme involved in producing phosphatidylcholine, a component of cell membranes. Genetic findings alone do not establish a choline deficiency.
Gene & pathway referencePLD3
PLD3 is the gene name for Phospholipase D Family Member 3. Learn what a specific result could mean and what to ask about it.
Gene & pathway referencePON1
PON1 is discussed in relation to how the body handles some compounds and protects certain fats.
Gene & pathway referencePPARD
PPARD is the gene name for Peroxisome Proliferator-Activated Receptor Delta. Learn what a specific result could mean and what to ask about it.
Gene & pathway referencePSEN1
PSEN1 encodes a presenilin protein that participates in gamma-secretase, a protein-processing complex. Some pathogenic variants can cause familial Alzheimer’s disease; a listed common marker is not equivalent to that diagnosis.
Gene & pathway referencePSEN2
PSEN2 encodes a presenilin protein that participates in gamma-secretase, a protein-processing complex. Some pathogenic variants can cause familial Alzheimer’s disease; a listed common marker is not equivalent to that diagnosis.
Gene & pathway referencePTGS2
PTGS2, commonly called COX-2, encodes an enzyme involved in prostaglandin production. Prostaglandins participate in pain, fever and inflammatory signaling.
Gene & pathway referenceRAD50
RAD50 encodes a DNA-repair protein. The surrounding genomic region also contains regulatory elements relevant to the nearby IL4, IL5 and IL13 cluster, so a locus association can concern more than the coding function of one gene.
Gene & pathway referenceSERPINE1
SERPINE1 makes PAI-1, a protein involved in breaking down blood clots. You may also see PAI4G used for this pathway.
Gene & pathway referenceSHBG
SHBG is the gene name for Sex Hormone-Binding Globulin. Learn what a specific result could mean and what to ask about it.
Gene & pathway referenceSHMT1
SHMT1 connects serine and glycine with folate chemistry.
Gene & pathway referenceSLC19A1
Encodes the reduced folate carrier, a protein involved in transporting folates into cells.
Gene & pathway referenceSOD1
SOD1 helps convert superoxide inside cells as part of the body’s antioxidant defenses.
Gene & pathway referenceSOD2
SOD2 works in mitochondria as part of the body’s antioxidant defenses.
Gene & pathway referenceSOD3
SOD3 works outside cells as part of the body’s antioxidant defenses.
Gene & pathway referenceSRD5A1
SRD5A1 is the gene name for Steroid 5α-Reductase Type 1. Learn what a specific result could mean and what to ask about it.
Gene & pathway referenceSULT1A1
SULT1A1 is the gene name for Sulfotransferase 1A1. Learn what a specific result could mean and what to ask about it.
Gene & pathway referenceTCN2
TCN2 helps carry vitamin B12 in the body. A gene result alone cannot tell you your B12 status.
Gene & pathway referenceTGFB1
TGFB1 encodes transforming growth factor beta 1, which has roles in immune regulation, tissue repair and extracellular-matrix production. Its effects can include both regulation of inflammation and promotion of fibrosis.
Gene & pathway referenceTNF
TNF encodes tumor necrosis factor, an immune-signaling protein involved in inflammation, host defense and regulation of cell survival. Its name should not be read as proof that a TNF result indicates cancer.
Gene & pathway referenceTNFRSF10A
TNFRSF10A encodes death receptor 4, or DR4, a receptor that can receive the TRAIL signal and participate in regulated cell-death pathways. TRAIL itself is encoded by TNFSF10.
Gene & pathway referenceTNFSF10
TNFSF10 encodes TRAIL, a signaling protein involved in regulated cell death through particular receptors. It is a different member of the TNF-related signaling family from TNF itself.
Gene & pathway referenceTPSAB1
TPSAB1 is the gene name for Alpha Tryptase. Learn what a specific result could mean and what to ask about it.
Gene & pathway referenceVDR
VDR encodes the vitamin D receptor, which helps regulate gene activity in response to active vitamin D. A receptor variant does not by itself mean receptors are absent or that the blood vitamin D level is low.
Gene & pathway referenceVKORC1
VKORC1 encodes vitamin K epoxide reductase, part of the vitamin K recycling system used in activating clotting proteins. It is not simply a vitamin K receptor.
