" /> WFS1 wt Allele - CISMeF





Preferred Label : WFS1 wt Allele;

NCIt synonyms : Wolframin ER Transmembrane Glycoprotein wt Allele; CTRCT41; WFRS; DFNA14; DFNA38; Wolfram Syndrome 1 (Wolframin) Gene; DFNA6; DIDMOAD; WFS; WFSL;

NCIt definition : Human WFS1 wild-type allele is located in the vicinity of 4p16.1 and is approximately 33 kb in length. This allele, which encodes wolframin protein, is involved in calcium homeostasis and the unfolded protein response in the endoplasmic reticulum. Mutations in the gene are associated with cataract 41, autosomal dominant deafness 6/14/38, Wolfram syndrome 1 and autosomal dominant Wolfram-like syndrome.;

GenBank Accession Number : AF084481;

Details


You can consult :


Nous contacter.
15/08/2025


[Home] [Top]

© Rouen University Hospital. Any partial or total use of this material must mention the source.