Wolframin

A nonaspan membrane glycoprotein of endoplasmic reticulum, ubiquitously expressed at highest levels in brain, pancreas, heart and insulinoma beta-cell lines, and encoded by WFS1 on 4p16.1
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References in periodicals archive ?
This gene encodes for a protein wolframin which is abundant in cells of nerves, muscles, pancreas, kidney, liver and ear.
Wolframin expression induces novel ion channel activity in endoplasmic reticulum membranes and increases intracellular calcium.
A recent genome-wide association study [85] of 511 TC patients of European genetic ancestry reported that one SNP, rs62283056, in the first intron of WFS1 (wolframin ER transmembrane glycoprotein) was significantly associated with cisplatin-associated ototoxicity (P = 1.4 x [10.sup.-8]), with higher cisplatin doses exacerbating hearing loss in TC patients with the risk allele.
Hofmann et al., "Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DID-MOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein," Human Molecular Genetics, vol.
WFS1 gene encodes wolframin, an endoglycosidase H-sensitive transmembrane glycoprotein localized in the endoplasmic reticulum (ER).
Wolframin has a hydrophilic amino-terminus in cytosol and a carboxyl-terminus in the ER lumen.
Wolframin (WFS1) is one of the genes that is induced in response to ER stress via XBP1 [9].
Hofmann et al., "Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (Wolframin) coding for a predicted transmembrane protein," Human Molecular Genetics, vol.
The disorder takes roots when the Wolframin gene present in our bodies starts mutating.
The mutation results in a loss of Wolframin from the cells that disrupts the production of insulin, causing diabetes.
Although a number of studies have reported association of functional or positional candidates, only 6 genes have been consistently associated with T2D: peroxisome proliferator-activated receptor gamma (PPARG), insulin receptor substrate 1 (IRS1), potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11), Wolfram syndrome 1 (wolframin) (WFS1), HNF1 homeobox A (HNF1A), and HNF1 homeobox B (HNF1B) (Table 1).
WFS1 encodes Wolframin, a protein that is defective in individuals suffering from the Wolfram syndrome, characterized by diabetes insipidus, juvenile diabetes, optic atrophy, and deafness.