TCIRG1 Summary

This gene encodes a subunit of a large protein complex known as a vacuolar H+-ATPase (V-ATPase). The protein complex acts as a pump to move protons across the membrane. This movement of protons helps regulate the pH of cells and their surrounding environment. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. V-ATPase is comprised of a cytosolic V1 domain and a transmembrane V0 domain. Alternative splicing results in multiple transcript variants. Mutations in this gene are associated with infantile malignant osteopetrosis. [provided by RefSeq, May 2017]

TCIRG1 Details

Gene Symbol : TCIRG1

Gene Name : T-cell immune regulator 1, ATPase H+ transporting V0 subunit a3

Chromosome : CHR 11: 680,389,94-680,538,38

Locus : 11q13.2

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TMC5 Details

Gene Symbol : TMC5

Gene Name : Transmembrane channel like 5

Chromosome : CHR 16: 194,105,38-194,991,12

Locus : 16p12.3

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