Recombinant Human H (+)/Cl (-) exchange transporter 5 (CLCN5), Truncated

Uniprot Id

P51795

Target Species

Human

Target Name

CLCN5

Target Full Name

H(+)/Cl(-) exchange transporter 5

Target Function

Proton-coupled chloride transporter. Functions as antiport system and exchanges chloride ions against protons. Important for normal acidification of the endosome lumen. May play an important role in renal tubular function.

Target Involvement

Hypophosphatemic rickets, X-linked recessive (XLRHR); Nephrolithiasis 2 (NPHL2); Nephrolithiasis 1 (NPHL1); Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis (LMWPHN)

Target Subcellular Location

Golgi apparatus membrane; Multi-pass membrane protein. Endosome membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Target Protein Families

Chloride channel (TC 2.A.49) family, ClC-5/CLCN5 subfamily

Target Tissue Specificity

Kidney. Moderately expressed in aortic vascular smooth muscle and endothelial cells, and at a slightly higher level in the coronary vascular smooth muscle.

Target Synonyms

Chloride Channel 5; Chloride channel protein 5; Chloride channel voltage sensitive 5; Chloride transporter ClC-5; ClC-5; CLC5; CLCK2; CLCN5; CLCN5_HUMAN; DENTS; H(+)/Cl(-) exchange transporter 5; hCIC-K2; NPHL1; NPHL2; Voltage gated chloride ion channel CLCN5; XLRH; XRN

Target Background

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.