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Article

Transport activity and presence of ClC-7/Ostm1 complex account for different cellular functions.

EMBO reports - 1 Jul 2014

Weinert Stefanie, Jabs Sabrina, Hohensee Svea, Chan Wing Lee, Kornak Uwe, Jentsch Thomas J

Abstract excerpt

Loss of the lysosomal ClC-7/Ostm1 2Cl(-)/H(+) exchanger causes lysosomal storage disease and osteopetrosis in humans and additionally changes fur colour in mice. Its conversion into a Cl(-) conductance in Clcn7(unc/unc) mice entails similarly severe lysosomal storage, but less severe osteopetrosis and no change in fur colour. To elucidate the basis for these phenotypical differences, we generated Clcn7(td/td)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24820037
DOI: 10.15252/embr.201438553
PMCID: PMC4196982

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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