WFS1
Wolframin is a protein that in humans is encoded by the WFS1 gene.Function
This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Wolframin appears to function as a cation-selective ion channel.Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD, an autosomal recessive disorder. The disease is characterized by insulin-dependent diabetes mellitus and bilateral progressive optic atrophy, usually presenting in childhood or early adult life. Diverse neurologic symptoms, including a predisposition to psychiatric illness, may also be associated with this disorder. A large number and variety of mutations in this gene, particularly in exon 8, can be associated with this syndrome. Mutations in this gene can also cause autosomal dominant deafness 6, also known as DFNA14 or DFNA38.
Mutations in this gene have also been associated with congenital cataracts.
