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Beschreibung

Adenosylhomocysteinase (UniProt: P23526, also known as EC: 3.3.1.1, AdoHcyase, S-adenosyl-L-homocysteine hydrolase) is encoded by the AHCY (also known as SAHH) gene (Gene ID: 191) in human. Adenosylhomocysteinase is a homotetrametic enzyme that catalyzes the reversible hydrolysis of S-adenosylhomocysteine to adenosine and L-homocysteine. Hence, it regulates the intracellular S-adenosylhomocysteine concentration, which is thought to be important for transmethylation reactions. Two isoforms of adenosylhomocysteinase have been reported that are produced by alternative splicing. It contains three nucleotide binding regions (aa 157-159, 222-227, and 299-301). Defects in AHCY gene cause hypermethioninemia that is characterized with failure to thrive, mental and motor retardation, facial dysmorphism with abnormal hair and teeth, and myocardiopathy.