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

2000/07/01 by Annalisa Frattini, Paul J. Orchard, Cristina Sobacchi +10 · 565 citations
Biochemistry, Genetics and Molecular Biology · Medicine · Nursing · #Anatomy #Biology #Bone Metabolism and Diseases #Bone health and treatments #Bone resorption #Endocrinology #Gene #Genetics #Immunology #Internal medicine #Medicine #Mutant #Osteochondrodysplasia #Osteoclast #Osteopetrosis #Pathology #T cell #TCIRG1 #Trace Elements in Health

paper · doi:10.1038/77131

published in Nature Genetics 25(3), 343-346 (Springer Science and Business Media LLC)

crossref issued 2000/07/01 · crossref published 2000/07/01 · crossref published-print 2000/07/01 · openalex publication_date 2000/07/01 · crossref created 2002/07/26 · crossref deposited 2023/05/18 · openalex created_date 2025/10/10 · crossref indexed 2026/06/29 · openalex updated_date 2026/07/23

Citations

• Molecular Cloning and Characterization of a Putative Novel Human Osteoclast-Specific 116-kDa Vacuolar Proton Pump Subunit
• Prevention of Acute Allograft Rejection by Antibody Targeting of TIRC7, a Novel T Cell Membrane Protein
• Genomic Organization of the Gene Coding for TIRC7, a Novel Membrane Protein Essential for T Cell Activation

Cited by

• The vacuolar (H+)-ATPases — nature's most versatile proton pumps
• One Disease, Many Genes: Implications for the Treatment of Osteopetroses
• TCIRG1 [wikipedia]