…ed in methylation, which is more than a question of folate intake. Rare inherited AHCY deficiency is different from most common variants. Seeing AHCY on a report does not prove that SAH is building up or that you have a rare disorder.
A que…
…enzyme nickname; it is also the official symbol of a different gene.
Also called: DAO, Amine Oxidase, Copper Containing 1, Diamine Oxidase
Histamine: making it, responding to it, clearing it
Dr. Purser’s genetics reference places AOC1 in th…
…upply. APOE risk is probabilistic and does not diagnose dementia or predict a certain outcome.
A question to bring to your visit
Has my APOE type been interpreted from both markers, and which modifiable health factors matter for me?
Variant…
…elated pathways: immune signaling, membranes/bile and nutrient handling can all enter the same conversation. Those connections do not make an IBS label, Crohn’s disease or another diagnosis interchangeable, and a common variant is not a sub…
…CO1, 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.
Also called: BCMO1, Beta-Caro…
BHMT helps recycle homocysteine into methionine using betaine. It is a different route from the folate and B12 pathway.
Also called: BHMT08, Betaine-Homocysteine S-Methyltransferase
Another route through the homocysteine map
BHMT is part of…
…s 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.
Also called: Breast Cancer 1
DNA repair and inherited cancer risk
…
…s 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.
Also called: Breast Cancer 2
DNA repair and inherited cancer risk
…
CBS helps move homocysteine into the pathway that supplies building blocks for glutathione.
Also called: Cystathionine Beta-Synthase
From homocysteine toward glutathione
Dr. Purser places CBS in the sulfur-handling pathway that connects hom…
CD14 helps immune cells recognize microbial components, including bacterial lipopolysaccharide, as part of innate immune signaling. This places it upstream of some cytokine responses.
Also called: Cluster of Differentiation 14
How immune ce…
CHDH helps convert choline toward betaine, a nutrient involved in the homocysteine pathway.
Also called: Choline Dehydrogenase
Choline can serve more than one purpose
CHDH helps convert choline toward betaine, while PEMT helps make phosphat…
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.
Also called: Collagen Type V Alpha 1 Chain
Collagen structure, t…
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