wolframin ER transmembrane glycoprotein
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalBilateral congenital or childhood onset cataracts
BOTH monoallelic and biallelic, autosomal or pseudoautosomalDDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalDiabetes with additional phenotypes suggestive of a monogenic aetiology
BOTH monoallelic and biallelic, autosomal or pseudoautosomalFamilial diabetes
BOTH monoallelic and biallelic, autosomal or pseudoautosomalHereditary ataxia
BIALLELIC, autosomal or pseudoautosomalHereditary ataxia with onset in adulthood
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomal+16 more panels — install the extension to see the full list inline on any page.
Wolfram syndrome
Wolfram-like syndrome
type 2 diabetes mellitus
autosomal dominant nonsyndromic hearing loss
cataract
diabetes mellitus
autosomal dominant nonsyndromic hearing loss 2A
Rare genetic deafness
optic atrophy
WFS1-related disorder
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Wolframin
Participates in the regulation of cellular Ca(2+) homeostasis, at least partly, by modulating the filling state of the endoplasmic reticulum Ca(2+) store (PubMed:16989814). Negatively regulates the ER stress response and positively regulates the stability of V-ATPase subunits ATP6V1A and ATP1B1 by preventing their degradation through an unknown proteasome-independent mechanism (PubMed:23035048)
Curated MONDO disease pages that list WFS1 among their top associated genes.
WFS1 · O76024
Mean pLDDT
73.2/ 100
Confident
890 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
