CLCN6

Chr 1AD

Cl-/H+ antiporter 6

Also known as: CLC-6, CONRIBA

NCBI Gene: 1185 ENSG00000011021 UniProt: P51797 OMIM: 602726

The protein functions as a voltage-gated chloride/proton antiporter that contributes to acidification of late endosome lumens. Mutations cause Neuronal ceroid lipofuscinosis 7, an autosomal recessive lysosomal storage disorder characterized by progressive neurodegeneration with seizures, vision loss, and cognitive decline typically beginning in late infancy to early childhood. The gene shows moderate constraint against loss-of-function variants, indicating intolerance to complete protein loss.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the voltage-dependent chloride channel protein family. Members of this family can function as either chloride channels or antiporters. This protein is primarily localized to late endosomes and functions as a chloride/proton antiporter. Alternate splicing results in both coding and non-coding variants. Additional alternately spliced variants have been described but their full-length structure is unknown. [provided by RefSeq, Mar 2012]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Ceroid lipofuscinosis, neuronal, 15MIM #619173

Clinical highlights

Gene-disease validity (ClinGen)

neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities · ADModerateconsider for supplementary testing

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.61

LOEUF

Multiple*

Mechanism· predicted