Gene Symbol | BHMT |
Entrez Gene ID | 635 |
Full Name | betaine--homocysteine S-methyltransferase |
Synonyms | BHMT1,HEL-S-61p |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: |