Gene: TCIRG1

Alternate names for this Gene: ATP6N1C|ATP6V0A3|Atp6i|OC-116kDa|OC116|OPTB1|Stv1|TIRC7|Vph1|a3

Gene 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.

Gene is located in Chromosome: 11

Location in Chromosome : 11q13.2

Description of this Gene: T cell immune regulator 1, ATPase H+ transporting V0 subunit a3

Type of Gene: protein-coding

rs587779413 in TCIRG1 gene and Congenital neutropenia PMID 24753205 2014 TCIRG1-associated congenital neutropenia.

rs587779413 in TCIRG1 gene and Neutropenia, Severe Congenital, Autosomal Dominant 1 PMID 24753205 2014 TCIRG1-associated congenital neutropenia.

rs1057517365 in TCIRG1 gene and Osteopetrosis, Autosomal Recessive 1 PMID 25829125 2015 Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis.

PMID 21042819 2011 Novel mutation of TCIRG1 and clinical pictures of two infantile malignant osteopetrosis patients.

PMID 22231430 2012 Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications.

PMID 15300850 2004 TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA.

PMID 12552563 2003 Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis.

PMID 11532986 2001 The mutational spectrum of human malignant autosomal recessive osteopetrosis.

PMID 10888887 2000 Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis.

PMID 25018813 2014 Malignant infantile osteopetrosis: case report with review of literature.

PMID 24101165 2014 Identification of novel mutation in autosomal recessive infantile malignant osteopetrosis.

PMID 23721911 2013 Infantile malignant osteopetrosis.

PMID 24535484 2014 Identification of TCIRG1 and CLCN7 gene mutations in a patient with autosomal recessive osteopetrosis.

PMID 26777052 2015 Genetic Diagnosis Using Whole Exome Analysis in Two Cases with Malignant Osteopetrosis of Infancy.

PMID 12507890 2003 Genotype-phenotype relationship in human ATP6i-dependent autosomal recessive osteopetrosis.

PMID 24989235 2015 A founder mutation in the TCIRG1 gene causes osteopetrosis in the Ashkenazi Jewish population.

PMID 19507210 2009 A single-center experience in 20 patients with infantile malignant osteopetrosis.

PMID 10942435 2000 Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis.