Aliases for AHCY Gene
External Ids for AHCY Gene
Previous GeneCards Identifiers for AHCY Gene
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]
GeneCards Summary for AHCY Gene
AHCY (Adenosylhomocysteinase) is a Protein Coding gene. Diseases associated with AHCY include hypermethioninemia with deficiency of s-adenosylhomocysteine hydrolase and psychomotor retardation due to s-adenosylhomocysteine hydrolase deficiency. Among its related pathways are Metabolism and Phase II conjugation. GO annotations related to this gene include identical protein binding and adenyl nucleotide binding. An important paralog of this gene is AHCYL2.
UniProtKB/Swiss-Prot for AHCY Gene
Adenosylhomocysteine is a competitive inhibitor of S-adenosyl-L-methionine-dependent methyl transferase reactions; therefore adenosylhomocysteinase may play a key role in the control of methylations via regulation of the intracellular concentration of adenosylhomocysteine.