Aliases for BHMT Gene
External Ids for BHMT Gene
Previous GeneCards Identifiers for BHMT Gene
This gene encodes a cytosolic enzyme that catalyzes the conversion of betaine and homocysteine to dimethylglycine and methionine, respectively. Defects in this gene could lead to hyperhomocyst(e)inemia, but such a defect has not yet been observed. [provided by RefSeq, Jul 2008]
GeneCards Summary for BHMT Gene
BHMT (Betaine--Homocysteine S-Methyltransferase) is a Protein Coding gene. Diseases associated with BHMT include Hyperhomocysteinemia and Choline Deficiency Disease. Among its related pathways are One carbon pool by folate and Metabolism. GO annotations related to this gene include protein complex binding and S-adenosylmethionine-homocysteine S-methyltransferase activity. An important paralog of this gene is BHMT2.
UniProtKB/Swiss-Prot for BHMT Gene
Involved in the regulation of homocysteine metabolism. Converts betaine and homocysteine to dimethylglycine and methionine, respectively. This reaction is also required for the irreversible oxidation of choline.