WFS1

Wolfram syndrome 1 (wolframin)
Identifiers
Symbols	WFS1 ; DFNA14; DFNA38; DFNA6; DIDMOAD; WFRS; WFS; WOLFRAMIN
External IDs	Template:OMIM5 Template:MGI HomoloGene: 4380
Gene ontology Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE WFS1 202908 at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Wolfram syndrome 1 (wolframin), also known as WFS1, is a human gene.

This gene encodes a transmembrane protein. 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.

Further reading

• Khanim F, Kirk J, Latif F, Barrett TG (2001). "WFS1/wolframin mutations, Wolfram syndrome, and associated diseases". Hum. Mutat. 17 (5): 357–67. doi:10.1002/humu.1110. PMID 11317350.CS1 maint: Multiple names: authors list (link)
• Cryns K, Sivakumaran TA, Van den Ouweland JM; et al. (2004). "Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease". Hum. Mutat. 22 (4): 275–87. doi:10.1002/humu.10258. PMID 12955714.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• McHugh RK, Friedman RA (2006). "Genetics of hearing loss: Allelism and modifier genes produce a phenotypic continuum". The anatomical record. Part A, Discoveries in molecular, cellular, and evolutionary biology. 288 (4): 370–81. doi:10.1002/ar.a.20297. PMID 16550584.
• Polymeropoulos MH, Swift RG, Swift M (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.CS1 maint: Multiple names: authors list (link)
• Lesperance MM, Hall JW, Bess FH; et al. (1996). "A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3". Hum. Mol. Genet. 4 (10): 1967–72. PMID 8595423.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Inoue H, Tanizawa Y, Wasson J; et al. (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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strom TM, Hörtnagel K, Hofmann S; et al. (1999). "Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein". Hum. Mol. Genet. 7 (13): 2021–8. PMID 9817917.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Van Camp G, Kunst H, Flothmann K; et al. (1999). "A gene for autosomal dominant hearing impairment (DFNA14) maps to a region on chromosome 4p16.3 that does not overlap the DFNA6 locus". J. Med. Genet. 36 (7): 532–6. PMID 10424813.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hardy C, Khanim F, Torres R; et al. (1999). "Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1". Am. J. Hum. Genet. 65 (5): 1279–90. PMID 10521293.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Furlong RA, Ho LW, Rubinsztein JS; et al. (2000). "A rare coding variant within the wolframin gene in bipolar and unipolar affective disorder cases". Neurosci. Lett. 277 (2): 123–6. PMID 10624825.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Awata T, Inoue K, Kurihara S; et al. (2000). "Missense variations of the gene responsible for Wolfram syndrome (WFS1/wolframin) in Japanese: possible contribution of the Arg456His mutation to type 1 diabetes as a nonautoimmune genetic basis". Biochem. Biophys. Res. Commun. 268 (2): 612–6. doi:10.1006/bbrc.2000.2169. PMID 10679252.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ohtsuki T, Ishiguro H, Yoshikawa T, Arinami T (2000). "WFS1 gene mutation search in depressive patients: detection of five missense polymorphisms but no association with depression or bipolar affective disorder". Journal of affective disorders. 58 (1): 11–7. PMID 10760554.CS1 maint: Multiple names: authors list (link)
• Gómez-Zaera M, Strom TM, Rodríguez B; et al. (2001). "Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees". Mol. Genet. Metab. 72 (1): 72–81. doi:10.1006/mgme.2000.3107. PMID 11161832.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kaytor EN, Zhu JL, Pao CI, Phillips LS (2001). "Physiological concentrations of insulin promote binding of nuclear proteins to the insulin-like growth factor I gene". Endocrinology. 142 (3): 1041–9. PMID 11181517.CS1 maint: Multiple names: authors list (link)
• Takeda K, Inoue H, Tanizawa Y; et al. (2001). "WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain". Hum. Mol. Genet. 10 (5): 477–84. PMID 11181571.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Tessa A, Carbone I, Matteoli MC; et al. (2001). "Identification of novel WFS1 mutations in Italian children with Wolfram syndrome". Hum. Mutat. 17 (4): 348–9. doi:10.1002/humu.32. PMID 11295831.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Bespalova IN, Van Camp G, Bom SJ; et al. (2002). "Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss". Hum. Mol. Genet. 10 (22): 2501–8. PMID 11709537.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Young TL, Ives E, Lynch E; et al. (2002). "Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1". Hum. Mol. Genet. 10 (22): 2509–14. PMID 11709538.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Crawford J, Zielinski MA, Fisher LJ; et al. (2002). "Is there a relationship between Wolfram syndrome carrier status and suicide?". Am. J. Med. Genet. 114 (3): 343–6. PMID 11920861.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)