Aliases for CLCN5 Gene
External Ids for CLCN5 Gene
Previous HGNC Symbols for CLCN5 Gene
Previous GeneCards Identifiers for CLCN5 Gene
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. [provided by RefSeq, Jan 2013]
GeneCards Summary for CLCN5 Gene
CLCN5 (Chloride Voltage-Gated Channel 5) is a Protein Coding gene. Diseases associated with CLCN5 include Dent Disease 1 and Hypophosphatemic Rickets, X-Linked Recessive. Among its related pathways are Activation of cAMP-Dependent PKA and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include ion channel activity and antiporter activity. An important paralog of this gene is CLCN4.
UniProtKB/Swiss-Prot Summary for CLCN5 Gene
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.