The clcn5 protein functions as a voltage-gated chloride channel and proton exchanger localized to endosomes. It mediates chloride transport and contributes to endosomal acidification. This protein is e...[+]

The clcn5 protein functions as a voltage-gated chloride channel and proton exchanger localized to endosomes. It mediates chloride transport and contributes to endosomal acidification. This protein is expressed in the kidney and pronephros, where it is involved in renal function. [-]

             Dent disease
             X-linked nephrolithiasis type I
             low molecular weight proteinuria with hypercalciuric nephrocalcinosis

          HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE; XLHRR
          NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE; XRN
          PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD