Gene: WFS1

Alternate names for this Gene: CTRCT41|WFRS|WFS|WFSL

Gene Summary: 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. 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 affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene.

Gene is located in Chromosome: 4

Location in Chromosome : 4p16.1

Description of this Gene: wolframin ER transmembrane glycoprotein

Type of Gene: protein-coding

Gene: LOC107986257

Alternate names for this Gene:

Gene Summary:

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rs74315205 in WFS1;LOC107986257 gene and DEAFNESS, AUTOSOMAL DOMINANT 6 PMID 21917145 2011 Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families.

rs372855769 in WFS1;LOC107986257 gene and Wolfram Syndrome 1 PMID 15605410 2005 Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene.

PMID 9817917 1998 Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein.

PMID 11161832 2001 Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees.

PMID 11295831 2001 Identification of novel WFS1 mutations in Italian children with Wolfram syndrome.

PMID 9771706 1998 A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome).

PMID 22226368 2012 Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease.

PMID 21538838 2011 Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.

PMID 10521293 1999 Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1.

rs74315205 in WFS1;LOC107986257 gene and Wolfram-Like Syndrome, Autosomal Dominant PMID 20069065 2010 Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1.

PMID 16648378 2006 Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene.

PMID 21538838 2011 Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.