ClC-c - Chloride channel-c
Enables chloride transmembrane transporter activity. Involved in chloride transmembrane transport; endosomal lumen acidification; and renal system process. Located in early endosome and recycling endosome. Is expressed in adult head. Used to study low molecular weight proteinuria with hypercalciuric nephrocalcinosis. Human ortholog(s) of this gene implicated in Dent disease 1; Raynaud-Claes syndrome; X-linked nephrolithiasis type I; X-linked recessive hypophosphatemic rickets; and low molecular weight proteinuria with hypercalciuric nephrocalcinosis. Orthologous to several human genes including CLCN4 (chloride voltage-gated channel 4). [provided by Alliance of Genome Resources, Nov 2024]
NCBI Orthologs
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Protein alignment
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