AHCY Antibody – Rabbit Polyclonal

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]

SAHH: 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. Defects in AHCY are the cause of hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD). A metabolic disorder characterized by hypermethioninemia associated with failure to thrive, mental and motor retardation, facial dysmorphism with abnormal hair and teeth, and myocardiopathy. Belongs to the adenosylhomocysteinase family.

Protein type: Other Amino Acids Metabolism - selenoamino acid; EC 3.3.1.1; Hydrolase; Amino Acid Metabolism - cysteine and methionine

Chromosomal Location of Human Ortholog: 20q11.22

Cellular Component: neuron projection; cytoplasm; melanosome; nucleus; cytosol

Molecular Function: identical protein binding; adenyl nucleotide binding; adenosylhomocysteinase activity

Biological Process: methylation; circadian sleep/wake cycle; sulfur amino acid metabolic process; S-adenosylmethionine cycle; xenobiotic metabolic process; response to hypoxia; S-adenosylhomocysteine catabolic process; one-carbon compound metabolic process; chronic inflammatory response to antigenic stimulus; response to nutrient

Disease: Hypermethioninemia With S-adenosylhomocysteine Hydrolase Deficiency