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Article

Isolation and characterization of the human CLC-5 chloride channel gene promoter.

Gene - 31 Dec 2000

Hayama A, Uchida S, Sasaki S, Marumo F

Abstract excerpt

The human CLC-5 chloride channel is expressed mainly in the kidney and its mutations cause Dent's disease (a familial renal tubular syndrome with hypercalciuria, tubular proteinuria, rickets, nephrocalcinosis, and eventual renal failure). To gain insight into the regulatory mechanism of CLC-5 expression, a genomic clone that contains the 5'-flanking region of the human CLC-5 gene was isolated and characterized....

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Source

Identifiers

PMID: 11167024
DOI: 10.1016/s0378-1119(00)00493-5

Genes

CLC
CLCN5

Provenance

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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Isolation and characterization of the human CLC-5 chloride channel gene promoter.PMID 11167024Read ↗

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Functional characterization of renal chloride channel, CLCN5, mutations associated with Dent'sJapan disease.Semantic proximity Read ↗

Four additional CLCN5 exons encode a widely expressed novel long CLC-5 isoform but fail to explain Dent's phenotype in patients without mutations in the short variant.Semantic proximity Read ↗

ClC-5 chloride channel and kidney stones: what is the link?Semantic proximity Read ↗

Characterization of renal chloride channel (CLCN5) mutations in Dent's disease.Semantic proximity Read ↗

Genomic structure of the human congenital chloride diarrhea (CLD) gene.Semantic proximity Read ↗

Novel truncating mutations in the ClC-5 chloride channel gene in patients with Dent's disease.Semantic proximity Read ↗

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ClC‐6 and ClC‐7 are two novel broadly expressed members of the CLC chloride channel familySemantic proximity Read ↗

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