Gene Symbol | AHCY |
Entrez Gene ID | 191 |
Full Name | adenosylhomocysteinase |
Synonyms | SAHH,adoHcyase |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | S-adenosylhomocysteine hydrolase belongs to the adenosylhomocysteinase family. It catalyzes the reversible hydrolysis of S-adenosylhomocysteine (AdoHcy) to adenosine (Ado) and L-homocysteine (Hcy). Thus, it regulates the intracellular S-adenosylhomocysteine (SAH) concentration thought to be important for transmethylation reactions. Deficiency in this protein is one of the different causes of hypermethioninemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]. |
Disorder MIM: | |
Disorder Html: | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 (3) |