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
In other databases
- CellAge gene expression
- This gene is present as 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