Also known as
Betaine-homocysteine S-methyltransferase variant, BHMT2
Overview
BHMT08 refers to a specific variant or isoform related to the BHMT (Betaine-Homocysteine S-Methyltransferase) gene family. The BHMT enzyme catalyzes the remethylation of homocysteine to methionine using betaine as a methyl donor, representing an alternative pathway to the folate-dependent methionine synthase pathway. This reaction is particularly important in the liver and kidney, where it helps regulate homocysteine levels and maintain methionine homeostasis. Elevated homocysteine levels have been associated with increased cardiovascular disease risk, neural tube defects, and other health conditions. Variants in BHMT-related genes may influence homocysteine metabolism, methyl group availability, and the body's response to dietary betaine and choline. Understanding BHMT08 variants can provide insights into methylation capacity, cardiovascular risk factors, and nutritional requirements for methyl donors such as betaine, choline, and folate.
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