CLCN5 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human CLCN5 wild-type allele is located in the vicinity of Xp11.23 and is approximately 177 kb in length. This allele, which encodes H(+)/Cl(-) exchange transporter 5 protein, is involved in ion transport, acidification of the endosome lumen and renal tubular function. Mutation of the gene is associated with Dent disease 1, X-linked recessive hypophosphatemic rickets, X-linked recessive nephrolithiasis with renal failure and low molecular weight proteinuria with hypercalciuric nephrocalcinosis.

**Synonyms:** - CLC5 - CLCK2 - Chloride Channel 5 Gene - Chloride Channel, Voltage-Gated, K2 Gene - Chloride Channel, Voltage-Sensitive 5 Gene - Chloride Voltage-Gated Channel 5 wt Allele - ClC-5 - DENT1 - DENTS - Dent Disease Gene - NPHL1 - NPHL2 - Nephrolithiasis 1 (X-Linked) Gene - Nephrolithiasis 2, X-Linked Gene - XLRH - XRN - hCIC-K2