T cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a
T-cell immune regulator 1
T-cell immune response cDNA7 protein
V ATPase 116 kDa
V ATPase 116 kDa isoform a3
V type proton ATPase 116 kDa subunit a
V-ATPase 116 kDa isoform a3
V-type proton ATPase 116 kDa subunit a isoform 3
Vacuolar proton translocating ATPase 116 kDa subunit A
Vacuolar proton translocating ATPase 116 kDa subunit a isoform 3
Part of the proton channel of V-ATPases (By similarity). Seems to be directly involved in T-cell activation.
Isoform long is highly expressed in osteoclastomas. Isoform short is highly expressed in thymus.
Involvement in disease
Defects in TCIRG1 are the cause of osteopetrosis autosomal recessive type 1 (OPTB1) [MIM:259700]; also called autosomal recessive Albers-Schonberg disease or infantile malignant osteopetrosis. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. The disorder occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. The features of OPTB1 are macrocephaly, progressive deafness and blindness, hepatosplenomegaly, and severe anemia beginning in early infancy or in fetal life. Deafness and blindness are generally thought to represent effects of pressure on nerves.