CLCN5 (NP_000075, 566 a.a. ~ 665 a.a) partial recombinant protein with GST tag. The sequence is GYPFLEAKEEFAHKTLAMDVMKPRRNDPLLTVLTQDSMTVEDVETIISETTYSGFPVVVS RESQRLVGFVLRRDLIISIENARKKQDGVVSTSIIYFTEH
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.
Pathway
Ion channel transport; Transmembrane transport of small molecules;
Citations
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