Description
Product Characteristics: TCIRG1 Antibody: The T-cell immune regulator 1 (TCIRG1) is the a3 subunit of the vacuolar-type proton transporting ATPase (V-ATPase), a proton pump in late endosomes and lysosomes that functions in the luminal acidification of these organelles. Genetic defects in the gene encoding this protein a responsible for a severe form of autosomal recessive osteopetrosis, a condition that leads to increased bone density, decreased bone strength, and inflammation in bone tissues. TCIRG1 is also required for the normal secretion of insulin and the bacteria-killing function of macrophages.
Target Information: Through alternate splicing, this gene encodes two proteins with similarity to subunits of the vacuolar ATPase (V-ATPase) but the encoded proteins seem to have different functions. V-ATPase is a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. V-ATPase is comprised of a cytosolic V1 domain and a transmembrane V0 domain. Mutations in this gene are associated with infantile malignant osteopetrosis. [provided by RefSeq, Jul 2008]