SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity.

doi:10.1002/jbmr.1849

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Article

SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 May 2013

Pangrazio Alessandra, Fasth Anders, Sbardellati Andrea, Orchard Paul J, Kasow Kimberly A, Raza Jamal, Albayrak Canan, Albayrak Davut, Vanakker Olivier M, De Moerloose Barbara, Vellodi Ashok, Notarangelo Luigi D, Schlack Claire, Strauss Gabriele, Kühl Jörn-Sven, Caldana Elena, Lo Iacono Nadia, Susani Lucia, Kornak Uwe, Schulz Ansgar, Vezzoni Paolo, Villa Anna, Sobacchi Cristina

Abstract excerpt

Human Autosomal Recessive Osteopetrosis (ARO) is a genetically heterogeneous disorder caused by reduced bone resorption by osteoclasts. In 2000, we found that mutations in the TCIRG1 gene encoding for a subunit of the proton pump (V-ATPase) are responsible for more than one-half of ARO cases. Since then, five additional genes have been demonstrated to be involved in the pathogenesis of the disease, leaving...

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Identifiers

PMID: 23280965
DOI: 10.1002/jbmr.1849

Genes

SNX10
TCIRG1
OSTM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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