Species Human Entrez 7466 | Human Mouse Ensembl ENSG00000109501 | |
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Aliases WFS1, CTRCT41, WFRS, WFS, WFSL, wolframin ER transmembrane glycoprotein External IDs MGI: 1328355 HomoloGene: 4380 GeneCards: WFS1 | ||
Wolframin is a protein that in humans is encoded by the WFS1 gene.
Contents
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 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 congenital cataracts.