Your search for "tcirg1" returned 117 TaqMan® SNP Genotyping Assays
T-cell immune regulator 1, ATPase H+ transporting V0 subunit a3
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]
A3, ATP6A3, ATP6I, ATP6N1C, ATP6V0A3, OC, OC-116, OC-116KDA, OC116, OPTB1, STV1, TCIRG1, TIRC7, VPH1
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