Gene Symbol | CLCN5 |
Entrez Gene ID | 1184 |
Full Name | chloride voltage-gated channel 5 |
Synonyms | CLC5,CLCK2,ClC-5,DENTS,NPHL1,NPHL2,XLRH,XRN,hCIC-K2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Dent disease, 300009 (3); Nephrolithiasis, type I, 310468 (3); Hypophosphatemic rickets, 300554 (3); Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990 (3) |