ADK Antibody – Mouse Monoclonal

This gene an enzyme which catalyzes the transfer of the gamma-phosphate from ATP to adenosine, thereby serving as a regulator of concentrations of both extracellular adenosine and intracellular adenine nucleotides. Adenosine has widespread effects on the cardiovascular, nervous, respiratory, and immune systems and inhibitors of the enzyme could play an important pharmacological role in increasing intravascular adenosine concentrations and acting as anti-inflammatory agents. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]

ADK: ATP dependent phosphorylation of adenosine and other related nucleoside analogs to monophosphate derivatives. Serves as a potential regulator of concentrations of extracellular adenosine and intracellular adenine nucleotides. Defects in ADK are the cause of hypermethioninemia due to adenosine kinase deficiency (HMAKD). A metabolic disorder characterized by global developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine. Homocysteine levels are typically normal. Belongs to the carbohydrate kinase PfkB family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 2.7.1.20; Nucleotide Metabolism - purine; Kinase, other

Chromosomal Location of Human Ortholog: 10q22|10q11-q24

Cellular Component: nucleoplasm; cytoplasm; cytosol

Molecular Function: metal ion binding; adenosine kinase activity; phosphotransferase activity, alcohol group as acceptor; ATP binding

Biological Process: nucleobase, nucleoside and nucleotide metabolic process; dATP biosynthetic process; ribonucleoside monophosphate biosynthetic process; positive regulation of T cell proliferation; circadian regulation of gene expression; adenosine metabolic process; phosphorylation; purine base metabolic process; purine salvage

Disease: Hypermethioninemia Due To Adenosine Kinase Deficiency