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  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 .
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.