WFS1

Wolframin is a is_associated_with::protein that in humans is encoded by the WFS1 is_associated_with::gene.

Function
Wolframin is a transmembrane protein. Wolframin appears to function as a cation-selective ion channel.

Clinical significance
Mutations in this gene are associated with an is_associated_with::autosomal recessive syndrome 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 (DFNA6), also known as DFNA14 or DFNA38.

Mutations in this gene have also been associated with is_associated_with::congenital cataracts.