LongevityMap Gene

Gene details

HGNC symbol
WFS1 
Aliases
WFS; WFRS; WFSL; CTRCT41 
Common name
wolframin ER transmembrane glycoprotein 
Description
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. [provided by RefSeq, Mar 2009]
Cytogenetic Location
4p16.1
UCSC Genome Browser
View 4p16.1 on the UCSC genome browser
OMIM
606201
Ensembl
ENSG00000109501
UniProt/Swiss-Prot
A0A0S2Z4V6_HUMAN
Entrez Gene
7466
UniGene
518602
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
wfs1b
Drosophila melanogaster
wfs1
Mus musculus
Wfs1
Rattus norvegicus
Wfs1

Studies (1)

Significant/Non-significant: 0/1

Longevity Association
Non-significant
Population
Dutch
Study Design
A set of alleles associated with age-related diseases was tested for association with human longevity in 723 nonagenarian siblings and 721 unrelated younger controls plus 979 singleton individuals >85 years of age and 1,167 younger controls
Conclusions
No differences were observed in disease risk allele frequency between long-lived individuals and controls. No individual allele was significantly associated with survival to old age after controlling for multiple testing.
Indentifier
rs10010131
Reference