CLCN5

(redirected from NPHL1)

CLCN5

A gene on chromosome Xp11.23-p11.22 that encodes a member of the voltage-gated chloride channel and ion transporters.

Molecular pathology
CLCN5 mutations have been found in Dent disease and renal tubular disorders with nephrolithiasis.
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References in periodicals archive ?
Dent disease 1 (MIM 300009, also known as X-linked nephrolithiasis, X-linked nephrolithiasis type 2 (NPHL2), X-linked recessive nephrolithiasis with renal failure, or X-linked recessive nephrolithiasis type 1 (NPHL1), MIM 310468) is an X-linked recessive disease caused by mutations in the CLCN5 gene which encodes chloride voltage-gated channel 5 (MIM300008) (139).