TCIRG1

Subunit of the V0 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (By similarity). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment (By similarity). Seems to be directly involved in T-cell activation (PubMed:10329006).

Osteopetrosis, autosomal recessive 1

OPTB1

A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis 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. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves.

None

The disease is caused by variants affecting the gene represented in this entry.

Belongs to the V-ATPase 116 kDa subunit family.

Isoform long is highly expressed in osteoclastomas. Isoform short is highly expressed in thymus.

• Membrane
• Multi-pass membrane protein

ATP6N1C, ATP6V0A3, TCIRG1, V-type proton ATPase 116 kDa subunit a 3, V-ATPase 116 kDa subunit a 3, Osteoclastic proton pump 116 kDa subunit, T-cell immune regulator 1, T-cell immune response cDNA7 protein, Vacuolar proton translocating ATPase 116 kDa subunit a isoform 3, OC-116 kDa, OC116, TIRC7

• entrezGene:10312
• omim:604592
• swissprot:Q13488

Proteins

Cardiovascular

92968Da