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Article

Osteopetrosis mutation R444L causes endoplasmic reticulum retention and misprocessing of vacuolar H+-ATPase a3 subunit.

The Journal of biological chemistry - 3 Aug 2012

Bhargava Ajay, Voronov Irina, Wang Yongqiang, Glogauer Michael, Kartner Norbert, Manolson Morris F

Abstract excerpt

Osteopetrosis is a genetic bone disease characterized by increased bone density and fragility. The R444L missense mutation in the human V-ATPase a3 subunit (TCIRG1) is one of several known mutations in a3 and other proteins that can cause this disease. The autosomal recessive R444L mutation results in a particularly malignant form of infantile osteopetrosis that is lethal in infancy, or early childhood. We have...

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Source

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Identifiers

PMID: 22685294
DOI: 10.1074/jbc.M112.345702
PMCID: PMC3411020

Genes

TCIRG1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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