CLCN5


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CLCN5

A gene on chromosome Xp11.23-p11.22 that encodes a member of the voltage-gated chloride channel and ion transporters.

Molecular pathology
CLCN5 mutations have been found in Dent disease and renal tubular disorders with nephrolithiasis.
References in periodicals archive ?
The result of genetic testing revealed a hemizygous double nucleotide deletion in exon 4 of the CLCN5 gene confirming the diagnosis of Dent's disease type 1.
Mutations in the CLCN5 gene encoding the electrogenic chloride/proton exchanger CIC-5 participating in the receptor-mediated endocytosis in the proximal tubule are a causative factor for Dent's disease of type 1.
Dent hastaligi, X'e bagli kalitilan bir durumdur ve CLCN5 genindeki mutasyon sonucunda olusur.
1025A>G) in CLCN5 gene was found and this was compatible with Dent's disease (Picture 2).