| WFS1 |
| LOCUS ID | 7466 | ||||||||||
| GENE_SYMBOL | WFS1 | ||||||||||
| GENE NAME | Wolfram syndrome 1 ( | ||||||||||
| SYNONYMNS | WFS, WFRS, WFSL, CTRCT41 | ||||||||||
| CHROMOSOME | 4 | ||||||||||
| HOMOLOGENE ID | 4380 |
| microRNAs | NA | NA |
| 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 domin |
| OBSERVATIONS |
|---|
| Complication | Evidence | PMID |
| Nephropathy | 1. Our findings suggest a shared genetic risk for type 2 diabetes and its kidney complications, and a potential role for WFS1 in early-onset diabetic nephropathy in American Indian populations. | 22513821 |