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TIRC7 / TCIRG1
T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal 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.
| Gene Name: | T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 |
| Family/Subfamily: | Transporter , ATPase - V type |
| Synonyms: | TCIRG1, A3, ATP6N1C, ATP6V0A3, ATP6N1D, Atp6i, OPTB1, OC-116, STV1, T-cell immune response cDNA 7, V- ATPase 116-kDa isoform a3, V-ATPase 116 kDa isoform a3, TIRC7, OC-116kDa, OC116, T-cell immune regulator 1, ATPase, H+ transporting, 116kD, V-ATPase 116-kDa, OC-116 kDa, T-cell, immune regulator 1, VPH1 |
| Target Sequences: | NM_006019 NP_006010.2 Q13488 |
Publications (1)
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