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WFS1

From SNPedia

is agene
is mentioned by
Full nameWolfram syndrome 1 (wolframin)
EntrezGene7466
PheGenI7466
VariationViewer7466
ClinVarWFS1
GeneCardsWFS1
dbSNP7466
SADR7466
HugeNav7466
wikipediaWFS1
googleWFS1
gopubmedWFS1
EVSWFS1
HEFalMpWFS1
MyGene2WFS1
23andMeWFS1
UniProtO76024
EnsemblENSG00000109501
OMIM606201
# SNPs68
 Max MagnitudeChromosome positionSummary
rs100101316,291,188
rs100129466,291,623
rs10463206,302,617
rs10489387906,301,739
rs10489388006,291,961
rs10489388106,302,250
rs10489388206,301,696
rs10489388306,302,281
rs11344617306,301,166
rs12191261806,302,371
rs125117426,294,720
rs131078066,269,344
rs131274456,269,423
rs13868265406,291,367
rs14158584706,301,111
rs14266847806,301,849
rs14667074106,301,681
rs1487974296,269,591
rs14901374006,301,990
rs180120806,301,162
rs180121206,300,792
rs18012146,301,295
rs19991098706,301,405
rs19994679706,301,467
rs20009575306,300,918
rs20067275506,301,815
rs20123957906,302,049
rs2893789006,301,966
rs2893789106,301,879
rs2893789206,301,306
rs2893789306,301,941
rs2893789406,301,891
rs2893789506,302,287
rs38790693006,301,846
rs38790693106,302,133
rs39751719606,301,936
rs39812306606,301,180
rs42735456,269,689
rs43202006,269,316
rs44585236,288,259
rs46893886,268,329
rs5600271906,302,122
rs5639302606,302,398
rs58777659806,289,095
rs644648206,293,966
rs7152437706,301,914
rs7152645806,301,989
rs7153092306,277,579
rs7153768506,300,657
rs7153967306,302,220
... further results

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