XRN

(redirected from CLCN5)
Also found in: Medical.

XRN

A newsreader program for Usenet news running under the X Window System.
Mentioned in ?
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).
Dent disease is a very rare X-linked disorder of proximal tubule dysfunction due to mutations in the CLCN5 chloride/protein exchanger gene (Dent disease 1, accounting for 60% of cases) or in the OCRL1 gene (Dent disease 2, accounting for 15% of cases) (Devuyst & Thakker, 2010; Edvardsson et al., 2013; Lieske et al., 2014).
The list of the diseases associated with OPLL includes hypophosphatemic rickets/osteomalacia, including an autosomal dominant form (MIM 193100) caused by FGF23 mutations, an X-linked dominant form (MIM 307800) caused by PHEX mutations, an X-linked recessive form (MIM 300554) caused by CLCN5 mutations, and autosomal recessive forms caused by DMP1 (MIM 600980) and ENPP1 (MIM 173335) mutations.
Most cases are caused by mutations in the CLCN5 gene classified as type 1 (OMIM # 300009) whereas mutations in the OCRL1 gene are responsible for type 2 (OMIM # 300555) of Dent's disease [1].
We found that this region including chloride channel protein 5 (clcn5) is highly conserved in X1 chromosomes of mammalian monotremes such as platypus and also in the PAR region of the X chromosome of therian mammals, indicating a previously unrecognized evolutionary link from fish to mammals [39].
In genetic analysis, a pathological change described as p.Y342C (c.1025A>G) in CLCN5 gene was found and this was compatible with Dent's disease (Picture 2).
Dent hastaligi, X'e bagli kalitilan bir durumdur ve CLCN5 genindeki mutasyon sonucunda olusur.