WFS1
Template:PBB 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
- ^ Polymeropoulos MH, Swift RG, Swift M (Jan 1995). "Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4". Nat Genet. 8 (1): 95–7. doi:10.1038/ng0994-95. PMID 7987399.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ^ Inoue H, Tanizawa Y, Wasson J, Behn P, Kalidas K, Bernal-Mizrachi E, Mueckler M, Marshall H, Donis-Keller H, Crock P, Rogers D, Mikuni M, Kumashiro H, Higashi K, Sobue G, Oka Y, Permutt MA (Oct 1998). "A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)". Nat Genet. 20 (2): 143–8. doi:10.1038/2441. PMID 9771706.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ^ a b c "Entrez Gene: WFS1 Wolfram syndrome 1 (wolframin)".
- ^ Osman AA, Saito M, Makepeace C, Permutt MA, Schlesinger P, Mueckler M (December 2003). "Wolframin expression induces novel ion channel activity in endoplasmic reticulum membranes and increases intracellular calcium". J. Biol. Chem. 278 (52): 52755–62. doi:10.1074/jbc.M310331200. PMID 14527944.
{{cite journal}}: CS1 maint: multiple names: authors list (link) CS1 maint: unflagged free DOI (link) - ^ Berry V, Gregory-Evans C, Emmett W, Waseem N, Raby J, Prescott D, Moore AT, Bhattacharya SS (March 2013). "Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans". Eur. J. Hum. Genet. 21 (12): 1356–60. doi:10.1038/ejhg.2013.52. PMID 23531866.
{{cite journal}}: CS1 maint: multiple names: authors list (link)
Further reading
External links
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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