WFS1

protein-coding External Resolution
GeneCards NCBI PubMed

External Info (via mygene)

SymbolWFS1
Namewolframin ER transmembrane glycoprotein
Typeprotein-coding
Sourcemygene

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

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