Entrez gene ID | | 7466 |
Official gene symbol | | WFS1 |
Full name | | Wolfram syndrome 1 (wolframin) |
Aliases | | ,FLJ51211,WFRS,WFS,WOLFRAMIN, |
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. [provided by RefSeq] |
Location | | Chromosome: 4 Locus: 4p16 |
Gene position | | 6271577 - 6304992 Map Viewer |
Gene orientation | | plus |
Gene size | | 33416 bp |
Gene sequence |
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OMIM ID | | 606201 |
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