ADA Antibody – Rabbit Polyclonal

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: Hydrolase; EC 3.5.4.4; Nucleotide Metabolism - purine

Chromosomal Location of Human Ortholog: 20q13.12

Cellular Component: cell junction; cell soma; cell surface; cytoplasm; cytosol; dendrite cytoplasm; external side of plasma membrane; extracellular space; lysosome; membrane; plasma membrane

Molecular Function: adenosine deaminase activity; protein binding; purine nucleoside binding; zinc ion binding

Biological Process: adenosine catabolic process; aging; alveolus development; dATP catabolic process; deoxyadenosine catabolic process; embryonic gut development; germinal center B cell differentiation; histamine secretion; hypoxanthine salvage; inosine biosynthetic process; liver development; negative regulation of adenosine receptor signaling pathway; negative regulation of circadian sleep/wake cycle, non-REM sleep; negative regulation of inflammatory response; negative regulation of leukocyte migration; negative regulation of mature B cell apoptosis; nucleobase, nucleoside and nucleotide metabolic process; Peyer's patch development; placenta development; positive regulation of alpha-beta T cell differentiation; positive regulation of B cell proliferation; positive regulation of calcium-mediated signaling; positive regulation of germinal center formation; positive regulation of heart rate; positive regulation of smooth muscle contraction; positive regulation of T cell differentiation in the thymus; positive regulation of T cell receptor signaling pathway; purine base metabolic process; purine nucleotide salvage; purine ribonucleoside monophosphate biosynthetic process; purine salvage; regulation of cell-cell adhesion mediated by integrin; response to drug; response to hydrogen peroxide; response to hypoxia; response to morphine; response to vitamin E; T cell activation; trophectodermal cell differentiation; xanthine biosynthetic process

Disease: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-negative, B Cell-negative, Nk Cell-negative, Due To Adenosine Deaminase Deficiency