WFS1
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | Wolfram syndrome 1 (wolframin) |
| EntrezGene | 7466 |
| PheGenI | 7466 |
| VariationViewer | 7466 |
| ClinVar | WFS1 |
| GeneCards | WFS1 |
| dbSNP | 7466 |
| Diseases | WFS1 |
| SADR | 7466 |
| HugeNav | 7466 |
| wikipedia | WFS1 |
| WFS1 | |
| gopubmed | WFS1 |
| EVS | WFS1 |
| HEFalMp | WFS1 |
| MyGene2 | WFS1 |
| 23andMe | WFS1 |
| UniProt | O76024 |
| Ensembl | ENSG00000109501 |
| OMIM | 606201 |
| # SNPs | 78 |
WFS1 (Wolfram syndrome 1) encodes wolframin, a protein localized within the endoplasmic reticulum. The function of the protein is unknown, but because of its location it is conjectured that it plays a role in protein folding or transport. In the pancreas, it may have a role in folding proinsulin into insulin.
Mutations in WFS1 have the potential to cause Wolfram syndrome, a disorder characterized by childhood-onset diabetes, optic nerve atrophy, and hearing loss.
Associated with deafness; DFNA6/14/38
