Protein Information
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.
同义词
a3; ATP6a3; Atp6i; ATP6N1C; ATP6V0A3; ATPase, H+ transporting, 116kD; ATPase, H+ transporting, lysosomal I; ATPase, H+ transporting, lysosomal V0 protein a; oc; OC116; OC-116; OC-116 kDa; OC-116kDa; OPTB1; osteoclastic proton pump; osteoclastic proton pump 116 kDa subunit; osteosclerotic; specific 116-kDa vacuolar proton pump subunit; Stv1; T cell immune response cDNA7 protein; T cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3; T-cell immune regulator 1; T-cell immune regulator 1, ATPase H+ transporting V0 subunit a3; T-cell immune response cDNA 7; T-cell immune response cDNA7 protein; T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a; T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3; T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3; TCIRG1; TIRC7; vacuolar proton translocating ATPase 116 kDa subunit A; Vacuolar proton translocating ATPase 116 kDa subunit a isoform 3; V-ATPase 116 kDa isoform a3; V-ATPase 116-kDa; V-ATPase a3; v-H+ATPase subunit a3; Vph1; V-type proton ATPase 116 kDa subunit a; V-type proton ATPase 116 kDa subunit a isoform 3