Wolfram Syndrome Protein 1 (WFS1)

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

Wolfram Syndrome Protein 1 (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.

Organism species: Homo sapiens (Human)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
ProteinsRPL118Hu01Recombinant Wolfram Syndrome Protein 1 (WFS1)SDS-PAGE; WB; ELISA; IP.
AntibodiesPAL118Hu01Polyclonal Antibody to Wolfram Syndrome Protein 1 (WFS1)WB, ICC, IHC-P, IHC-F, ELISA
MAL118Hu21Monoclonal Antibody to Wolfram Syndrome Protein 1 (WFS1)WB, ICC, IHC-P, IHC-F, ELISA
Assay KitsSEL118HuELISA Kit for Wolfram Syndrome Protein 1 (WFS1)Enzyme-linked immunosorbent assay
SCL118HuCLIA Kit for Wolfram Syndrome Protein 1 (WFS1)Chemiluminescent immunoassay

Organism species: Mus musculus (Mouse)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
ProteinsRPL118Mu01Recombinant Wolfram Syndrome Protein 1 (WFS1)SDS-PAGE; WB; ELISA; IP.
RPL118Mu02Recombinant Wolfram Syndrome Protein 1 (WFS1)SDS-PAGE; WB; ELISA; IP.
AntibodiesPAL118Mu01Polyclonal Antibody to Wolfram Syndrome Protein 1 (WFS1)WB, ICC, IHC-P, IHC-F, ELISA
PAL118Mu02Polyclonal Antibody to Wolfram Syndrome Protein 1 (WFS1)WB, ICC, IHC-P, IHC-F, ELISA
Assay KitsSEL118MuELISA Kit for Wolfram Syndrome Protein 1 (WFS1)Enzyme-linked immunosorbent assay
SCL118MuCLIA Kit for Wolfram Syndrome Protein 1 (WFS1)Chemiluminescent immunoassay

Organism species: Rattus norvegicus (Rat)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
ProteinsRPL118Ra01Recombinant Wolfram Syndrome Protein 1 (WFS1)SDS-PAGE; WB; ELISA; IP.
AntibodiesPAL118Ra01Polyclonal Antibody to Wolfram Syndrome Protein 1 (WFS1)WB, ICC, IHC-P, IHC-F, ELISA
MAL118Ra21Monoclonal Antibody to Wolfram Syndrome Protein 1 (WFS1)WB, ICC, IHC-P, IHC-F, ELISA
Assay KitsSEL118RaELISA Kit for Wolfram Syndrome Protein 1 (WFS1)Enzyme-linked immunosorbent assay
SCL118RaCLIA Kit for Wolfram Syndrome Protein 1 (WFS1)Chemiluminescent immunoassay
  1. "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]
  2. "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]
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  4. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
  5. "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]
  6. "WFS1 protein modulates the free Ca(2+) concentration in the endoplasmic reticulum."FEBS Lett. 580:5635-5640(2006) [PubMed] [Europe PMC] [Abstract]
  7. "WFS1/wolframin mutations, Wolfram syndrome, and associated diseases."Hum. Mutat. 17:357-367(2001) [PubMed] [Europe PMC] [Abstract]
  8. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  9. "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]
  10. "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]
  11. "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]
  12. "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]
  13. "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]
  14. "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]
  15. "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]
  16. ErratumHum. Mol. Genet. 10:3111-3111(2001)
  17. "Identification of novel WFS1 mutations in Italian children with Wolfram syndrome."Hum. Mutat. 17:348-349(2001) [PubMed] [Europe PMC] [Abstract]
  18. "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]
  19. "Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees."Mol. Genet. Metab. 72:72-81(2001) [PubMed] [Europe PMC] [Abstract]
  20. "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]
  21. "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]
  22. "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]
  23. "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]
  24. "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]
  25. "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]
  26. "Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans."Eur. J. Hum. Genet. 21:1356-1360(2013) [PubMed] [Europe PMC] [Abstract]