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Article

Osteoclast rich osteopetrosis due to defects in the TCIRG1 gene.

Bone - 1 Dec 2022

Capo Valentina, Abinun Mario, Villa Anna

Abstract excerpt

Discovery that mutations in TCIRG1 (also known as Atp6i) gene are responsible for most instances of autosomal recessive osteopetrosis (ARO) heralded a new era for comprehension and treatment of this phenotypically heterogeneous rare bone disease. TCIRG1 encodes the a3 subunit, an essential isoform of the vacuolar ATPase proton pump involved in acidification of the osteoclast resorption lacuna and in secretory...

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Identifiers

PMID: 35981697
DOI: 10.1016/j.bone.2022.116519

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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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