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CLCN5 chloride voltage-gated channel 5

Also known as: XRN; CLC5; XLRH; CLCK2; ClC-5; DENTS; NPHL1; NPHL2; hCIC-K2

Summary

This gene encodes a member of the ClC family of chloride ion channels and ion transporters. The encoded protein is primarily localized to endosomal membranes and may function to facilitate albumin uptake by the renal proximal tubule. Mutations in this gene have been found in Dent disease and renal tubular disorders complicated by nephrolithiasis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-10-18)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-10-18)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
Xp11.23
Sequence:
Chromosome: X; NC_000023.11 (49922615..50099235)
Total number of exons:
17

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