WFS1

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WFS1
Identifiers
Aliases WFS1, CTRCT41, WFRS, WFS, WFSL, wolframin ER transmembrane glycoprotein
External IDs MGI: 1328355 HomoloGene: 4380 GeneCards: WFS1
Genetically Related Diseases
type 2 diabetes mellitus[1]
RNA expression pattern
PBB GE WFS1 202908 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_006005
NM_001145853

NM_011716

RefSeq (protein)

NP_001139325
NP_005996

NP_035846.1
NP_035846

Location (UCSC) Chr 4: 6.27 – 6.3 Mb Chr 5: 36.97 – 36.99 Mb
PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Wolframin is a protein that in humans is encoded by the WFS1 gene.[4][5][6]

Function[edit]

Wolframin is a transmembrane protein.[6] Wolframin appears to function as a cation-selective ion channel.[7]

Clinical significance[edit]

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.[6]

Mutations in this gene have also been associated with congenital cataracts.[8]

References[edit]

  1. ^ "Diseases that are genetically associated with WFS1 view/edit references on wikidata". 
  2. ^ "Human PubMed Reference:". 
  3. ^ "Mouse PubMed Reference:". 
  4. ^ 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. 
  5. ^ 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. 
  6. ^ a b c "Entrez Gene: WFS1 Wolfram syndrome 1 (wolframin)". 
  7. ^ 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. 
  8. ^ 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. 

Further reading[edit]

External links[edit]

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