Aliases for WFS1 Gene
External Ids for WFS1 Gene
Previous HGNC Symbols for WFS1 Gene
Previous GeneCards Identifiers for WFS1 Gene
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]
GeneCards Summary for WFS1 Gene
WFS1 (Wolframin ER Transmembrane Glycoprotein) is a Protein Coding gene. Diseases associated with WFS1 include wolfram syndrome and cataract 41. Among its related pathways are Protein processing in endoplasmic reticulum and Ca, cAMP and Lipid Signaling. GO annotations related to this gene include transporter activity and calmodulin binding.
UniProtKB/Swiss-Prot for WFS1 Gene
Participates in the regulation of cellular Ca(2+) homeostasis, at least partly, by modulating the filling state of the endoplasmic reticulum Ca(2+) store.