WFS1

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

References

Further reading

External links

  • GeneReviews/NCBI/NIH/UW entry on WFS1-Related Disorders

    • This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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    WFS

    WFS may stand for:

  • Wave field synthesis
  • Web Feature Service, a standard protocol for serving georeferenced map images over the Internet
  • Well-founded semantics
  • William French Smith
  • Wilmington Friends School
  • Windows Fax and Scan
  • Women For Sobriety
  • Worldwide Flight Services
  • World Flute Society
  • World Food Summit
  • World Fuel Services
  • World Future Society
    • Read more
    This page contains text from Wikipedia, the Free Encyclopedia - https://wn.com/WFS

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