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 ?
Approximately 50-60% of cases with Dent disease have CLCN5 mutations, 15-20% have OCRL mutations and the remaining cases have no detectable mutation (140,146).
Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets.
Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5).
Genetic screening for either of the two implicated genes (CLCN5 and OCRL1) can be used to confirm the diagnosis (Edvardsson et al., 2013; Lieske et al., 2014).
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.
The X-linked R52 marker is assembled and colocalized in a highly conserved region of LG3 containing UNH115, clcn5 gene, and GM180 [42].
In fact, the syntenic segment of clcn5 within the putative SD region in tilapia is also found in the sex chromosome of rainbow trout, where the Y-linked sdY localizes [10] and in stickleback, revealing a common segment shared among these sex chromosomes, indicating that they are derived from a common ancestor.
In our patient, a pathological change which was defined as p.Y342C(c.1025A>G) in the CLCN5 gene was found.