CLCN5


Also found in: Encyclopedia.

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.
References in periodicals archive ?
To this end we have curated a list of 1,187 genes representing ER, Golgi, Endosomes and Lysosomes (EGEL) around which we develop independent but interconnected approaches: (i) RNA-seq and antibody microarrays to identify co-regulated MTMs; (ii) high-content siRNA screening to define functional MTMs; (iii) epistatic functional analysis between EGEL genes and five membrane trafficking disease genes (TRAPPC2 in chondrocytes, Sec23A in osteoblasts, OCRL and CLCN5 in proximal tubular epithelial kidney cells, and VAPB in neuronal cells); and (iv) studies of protein-protein interactions to generate functional and physical networks centered on the disease genes.
Dent hastaligi, X'e bagli kalitilan bir durumdur ve CLCN5 genindeki mutasyon sonucunda olusur.