WFS1
Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). Wolframin is a protein that in humans is encoded by the WFS1 gene.[1][2][3]
Function
Wolframin is a transmembrane protein.[3] Wolframin appears to function as a cation-selective ion channel.[4]
Clinical significance
Mutations in this gene are associated with an 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.[3]
Mutations in this gene have also been associated with congenital cataracts.[5]
References
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Further reading
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External links
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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