NP_000678.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
adenosylhomocysteinase isoform 1
NCBI Official Synonym Full Names
adenosylhomocysteinase
NCBI Protein Information
adenosylhomocysteinase
UniProt Protein Name
Adenosylhomocysteinase
UniProt Synonym Protein Names
S-adenosyl-L-homocysteine hydrolase
UniProt Synonym Gene Names
UniProt Entry Name
SAHH_HUMAN
NCBI Summary for AHCY
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]
UniProt Comments for AHCY
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: Amino Acid Metabolism - cysteine and methionine; EC 3.3.1.1; Other Amino Acids Metabolism - selenoamino acid; Hydrolase
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; S-adenosylmethionine cycle; sulfur amino acid metabolic process; 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
Product References and Citations for anti-AHCY antibody
Yideng,J.,DNA Cell Biol. 26 (8), 603-611 (2007) Arredondo-Vega,F.X.,Ann. Hum. Genet. 53 (PT 2), 157-167 (1989) Li,Q.S.,Biochemistry 47 (17), 4983-4991 (2008)
Research Articles on AHCY
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Products associated with anti-AHCY antibody
Pathways associated with anti-AHCY antibody
Diseases associated with anti-AHCY antibody
Organs/Tissues associated with anti-AHCY antibody
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