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WFS1

From Wikipedia, the free encyclopedia
WFS1
Identifiers
AliasesWFS1, CTRCT41, WFRS, WFS, WFSL, wolframin ER transmembrane glycoprotein
External IDsOMIM: 606201; MGI: 1328355; HomoloGene: 4380; GeneCards: WFS1; OMA:WFS1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_006005
NM_001145853

NM_011716

RefSeq (protein)

NP_001139325
NP_005996

NP_035846

Location (UCSC)Chr 4: 6.27 – 6.3 MbChr 5: 37.12 – 37.15 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Wolframin is a protein that in humans is encoded by the WFS1 gene.[5][6][7]

Function

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This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines.[7] Wolframin appears to function as a cation-selective ion channel.[8]

Clinical significance

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Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease is characterized by non-immune 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.[7]

Mutations in this gene have also been associated with congenital cataracts.[9]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000109501Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000039474Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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. S2CID 13210147.
  6. ^ 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. S2CID 11917210.
  7. ^ a b c "WFS1 wolframin ER transmembrane glycoprotein [ Homo sapiens (human) ]". National Center for Biotechnology Information.
  8. ^ 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.
  9. ^ 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. PMC 3831071. PMID 23531866.

Further reading

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