ATP6V0A3 | definition of ATP6V0A3 by Medical dictionary
TCIRG1 (redirected from ATP6V0A3)
TCIRG1 A gene on chromosome 11q13.2 that encodes an osteoclast-specific H+-ATPase proton pump and multipass membrane protein that is part of the proton channel of V-ATPases, thought to be involved in T-cell activation.
Defects in TCIRG1 cause osteopetrosis autosomal recessive type 1 (autosomal recessive Albers-Schonberg disease).
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References in periodicals archive
Mutations in the gene TCIRGl (ATP6V0A3) encoding the a3 subunit were found to cause infantile malignant osteopetrosis (3,4).
Mutation analysis: Patient DNAs were investigated for mutations in the genes TCIRGl (ATP6V0A3) and CLCN7 by amplifying all exons and flanking intronic regions by PCR using genomic DNA as a template.