TCIRG1 : T cell immune regulator 1, ATPase H+ transporting V0 subunit a3

Description

The TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3) is a protein-coding gene located on chromosome 11.

The TCIRG1 gene provides instructions for making a subunit of a protein complex called vacuolar H+-ATPase (V-ATPase). V-ATPases are pumps that move protons across membranes, regulating the pH of cells and their surroundings. The V-ATPase containing the TCIRG1 subunit is crucial in osteoclasts, cells responsible for breaking down bone tissue during bone remodeling. Osteoclasts have a specialized membrane called the ruffled border, where V-ATPases pump protons, making the environment acidic. This acidity is essential for bone breakdown.

The TCIRG1 gene encodes a subunit of the V0 complex of vacuolar (H+)-ATPase (V-ATPase), a multi-subunit enzyme responsible for acidifying intracellular compartments. This enzyme also plays a role in acidifying the extracellular environment in some cell types. TCIRG1 is involved in T-cell activation.

TCIRG1 is also known as ATP6N1C, ATP6V0A3, Atp6i, OC-116kDa, OC116, OPTB1, Stv1, TIRC7, Vph1, a3.

Associated Diseases

• Autosomal recessive malignant osteopetrosis
• Intermediate osteopetrosis
• Osteopetrosis, autosomal recessive 1
• Dysosteosclerosis
• Autosomal dominant severe congenital neutropenia
• Severe congenital neutropenia
• Osteopetrosis