| CLCN5 |
| LOCUS ID | 1184 | ||||||||||
| GENE_SYMBOL | CLCN5 | ||||||||||
| GENE NAME | chloride channel, vo | ||||||||||
| SYNONYMNS | XRN, CLC5, XLRH, CLCK2, ClC-5, DENTS, NPHL1, NPHL2, hCIC-K | ||||||||||
| CHROMOSOME | X | ||||||||||
| HOMOLOGENE ID | 73872 |
| microRNAs | NA | NA |
| GENE SUMMARY |
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| 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. Altertively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013] |
| OBSERVATIONS |
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| Complication | Evidence | PMID |
| Nephropathy | 1. Glomerular ClC-5 levels were significantly higher in diabetic nephropaty and MG at both mRNA and protein level (p<0.002; p<0.01) | 23029130 |