Adenosine Deaminase (ADA) Human Active Protein

This gene encodes an enzyme that catalyzes the hydrolysis of adenosine to inosine. Various mutations have been described for this gene and have been linked to human diseases. Deficiency in this enzyme causes a form of severe combined immunodeficiency disease (SCID), in which there is dysfunction of both B and T lymphocytes with impaired cellular immunity and decreased production of immunoglobulins, whereas elevated levels of this enzyme have been associated with congenital hemolytic anemia. [provided by RefSeq, Jul 2008]

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: EC 3.5.4.4; Hydrolase; Nucleotide Metabolism - purine

Chromosomal Location of Human Ortholog: 20q13.12

Cellular Component: dendrite cytoplasm; extracellular space; cell surface; cell soma; membrane; lysosome; cytoplasm; plasma membrane; cell junction; cytosol; 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; adenosine catabolic process; T cell activation; deoxyadenosine catabolic process; response to morphine; positive regulation of calcium-mediated signaling; purine salvage; positive regulation of T cell differentiation in the thymus; histamine secretion; purine ribonucleoside monophosphate biosynthetic process; response to vitamin E; regulation of cell-cell adhesion mediated by integrin; negative regulation of mature B cell apoptosis; positive regulation of T cell receptor signaling pathway; positive regulation of B cell proliferation; positive regulation of germinal center formation; hypoxanthine salvage; negative regulation of adenosine receptor signaling pathway; positive regulation of smooth muscle contraction; embryonic gut development; placenta development; aging; response to drug; Peyer's patch development; 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; response to hydrogen peroxide; xanthine biosynthetic process; 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