Wolfram Syndrome Protein 1 (WFS1)

DFNA14; DFNA38; DFNA6; DIDMOAD; WFRS; WFS; Wolframin

SPN	N269
HGNC	12762
MGI	1328355
PubMed	16195229
RGD	68954
UniProt	O76024
Wiki	WFS1

Wolframin is a transmembrane protein.Wolframin appears to function as a cation-selective ion channel.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).Highly expressed in heart followed by brain, placenta, lung and pancreas. Weakly expressed in liver, kidney and skeletal muscle. Also expressed in islet and beta-cell insulinoma cell line.

Reference

"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. 7:2021-2028(1998) [PubMed] [Europe PMC] [Abstract]

"A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram Syndrome)."
Nat. Genet. 20:143-148(1998) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"WFS1 protein modulates the free Ca(2+) concentration in the endoplasmic reticulum."
FEBS Lett. 580:5635-5640(2006) [PubMed] [Europe PMC] [Abstract]

"WFS1/wolframin mutations, Wolfram syndrome, and associated diseases."
Hum. Mutat. 17:357-367(2001) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]

"Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1."
Am. J. Hum. Genet. 65:1279-1290(1999) [PubMed] [Europe PMC] [Abstract]

"A rare coding variant within the wolframin gene in bipolar and unipolar affective disorder cases."
Neurosci. Lett. 277:123-126(1999) [PubMed] [Europe PMC] [Abstract]

"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. 268:612-616(2000) [PubMed] [Europe PMC] [Abstract]

"WFS1 gene mutation search in depressive patients: detection of five missense polymorphisms but no association with depression or bipolar affective disorder."
J. Affect. Disord. 58:11-17(2000) [PubMed] [Europe PMC] [Abstract]

"Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss."
Hum. Mol. Genet. 10:2501-2508(2001) [PubMed] [Europe PMC] [Abstract]

"Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1."
Hum. Mol. Genet. 10:2509-2514(2001) [PubMed] [Europe PMC] [Abstract]

Erratum
Hum. Mol. Genet. 10:3111-3111(2001)

"Identification of novel WFS1 mutations in Italian children with Wolfram syndrome."
Hum. Mutat. 17:348-349(2001) [PubMed] [Europe PMC] [Abstract]

"Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family."
J. Hum. Genet. 47:395-399(2002) [PubMed] [Europe PMC] [Abstract]

"Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees."
Mol. Genet. Metab. 72:72-81(2001) [PubMed] [Europe PMC] [Abstract]

"Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene."
Hum. Mutat. 25:99-100(2005) [PubMed] [Europe PMC] [Abstract]

"Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene."
J. Med. Genet. 43:435-440(2006) [PubMed] [Europe PMC] [Abstract]

"Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1."
Am. J. Med. Genet. A 146:2258-2265(2008) [PubMed] [Europe PMC] [Abstract]

"Autosomal dominant optic neuropathy and sensorineural hearing loss associated with a novel mutation of WFS1."
Mol. Vis. 16:26-35(2010) [PubMed] [Europe PMC] [Abstract]

"Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment."
Am. J. Med. Genet. A 155:1298-1313(2011) [PubMed] [Europe PMC] [Abstract]

"Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease."
BMC Med. Genet. 13:3-3(2012) [PubMed] [Europe PMC] [Abstract]

"Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans."
Eur. J. Hum. Genet. 21:1356-1360(2013) [PubMed] [Europe PMC] [Abstract]