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C185449Level 6

TCIRG1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human TCIRG1 wild-type allele is located in the vicinity of 11q13.2 and is approximately 15 kb in length. This allele, which encodes V-type proton ATPase 116 kDa subunit a 3 protein, is involved in proton pump activity. Mutations in this gene are associated with infantile malignant osteopetrosis.

**Synonyms:** - ATP6N1C - ATP6V0A3 - ATPase, H+ Transporting, 116kD Gene - ATPase, H+ Transporting, Lysosomal, V0 Subunit A3 Gene - Atp6i - OC-116kDa - OC116 - OPTB1 - Stv1 - T Cell Immune Regulator 1 Gene - T Cell Immune Regulator 1, ATPase H+ Transporting V0 Subunit A3 wt Allele - T-Cell Immune Regulator 1, ATPase H+ Transporting V0 Subunit A3 Gene - T-Cell, Immune Regulator 1 Gene - T-Cell, Immune Regulator 1, ATPase, H+ Transporting, Lysosomal V0 Protein A Gene - T-Cell, Immune Regulator 1, ATPase, H+ Transporting, Lysosomal V0 Protein A Isoform 3 Gene - T-Cell, Immune Regulator 1, ATPase, H+ Transporting, Lysosomal V0 Subunit A3 Gene - TIRC7 - Vacuolar Proton Pump, Alpha Subunit 3 Gene - Vph1 - a3

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