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clcn5

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Official Full Name
chloride channel, voltage-sensitive 5
Background
This gene encodes a member of the ClC family of chloride ion channels and ion transporters. Mutations in this gene have been found in Dent disease and renal tubular disorders complicated by nephrolithiasis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Synonyms
CLCN5; chloride channel 5; nephrolithiasis 1 (X linked) , nephrolithiasis 2, X linked , NPHL1, NPHL2; H(+)/Cl(-) exchange transporter 5; ClC 5; CLC5; Dent disease; DENTS; hCIC K2; hClC K2; XLRH; XRN; Chloride channel protein 5; Chloride transporter ClC-5; ClC-5; CLCK2; CLCN5_HUMAN; hCIC-K2; NPHL1; NPHL2; OTTHUMP00000023279; OTTHUMP00000023280; OTTHUMP00000023281; OTTHUMP00000023282; hClC-K2; chloride channel, voltage-sensitive 5; chloride channel 5 , nephrolithiasis 1 (X linked) , nephrolithiasis 2, X linked , NPHL1, NPHL2; CLCN4

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