ADA: a enzyme that converts adenosine + H2O into inosine + NH3. Found in all tissues, occurs in large amounts in T-lymphocytes and, at the time of weaning, in gastrointestinal tissues. Genetic ADA deficiencies are a cause of autosomal recessive severe combined immuno-deficiency (SCID). Hereditary hemolytic anemia is caused by expression levels in erythrocytes 50-70 times greater than the norm.
Protein type: Nucleotide Metabolism - purine; EC 3.5.4.4; Hydrolase
Chromosomal Location of Human Ortholog: 20q13.12
Cellular Component: dendrite cytoplasm; extracellular space; cell surface; membrane; cell soma; lysosome; cytoplasm; plasma membrane; cytosol; cell junction; external side of plasma membrane
Molecular Function: adenosine deaminase activity; protein binding; zinc ion binding; purine nucleoside binding
Biological Process: negative regulation of circadian sleep/wake cycle, non-REM sleep; T cell activation; adenosine catabolic process; deoxyadenosine catabolic process; response to morphine; positive regulation of calcium-mediated signaling; purine salvage; histamine secretion; positive regulation of T cell differentiation in the thymus; purine ribonucleoside monophosphate biosynthetic process; response to vitamin E; regulation of cell-cell adhesion mediated by integrin; positive regulation of T cell receptor signaling pathway; negative regulation of mature B cell apoptosis; positive regulation of B cell proliferation; positive regulation of germinal center formation; hypoxanthine salvage; positive regulation of smooth muscle contraction; negative regulation of adenosine receptor signaling pathway; embryonic gut development; aging; placenta development; Peyer's patch development; response to drug; dATP catabolic process; nucleobase, nucleoside and nucleotide metabolic process; positive regulation of heart rate; liver development; negative regulation of leukocyte migration; purine base metabolic process; trophectodermal cell differentiation; purine nucleotide salvage; xanthine biosynthetic process; response to hydrogen peroxide; negative regulation of inflammatory response; response to hypoxia; inosine biosynthetic process; germinal center B cell differentiation; alveolus development; positive regulation of alpha-beta T cell differentiation
Disease: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-negative, B Cell-negative, Nk Cell-negative, Due To Adenosine Deaminase Deficiency
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