Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol WFS1 contributors: mct - updated : 06-11-2018
HGNC name Wolfram syndrome 1 (wolframin)
HGNC id 12762
ASSOCIATED DISORDERS
corresponding disease(s) DIDMOAD , DFNA6 , DFNA14 , DFNA38 , JOD , ADCC5 , NDCCD
related resource Hereditary Hearing Loss Homepage
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional somatic mutation     loss of function
leading to instability and proteasomal degradation of wolframin
constitutional       loss of function
mediates a self-perpetuating cycle of cell death
constitutional       loss of function
influenced significantly the pathways related to tissue morphology, endocrine system development and function, molecular transport network
Susceptibility
  • to common type 2 diabetes
  • to age-related hearing impairment (ARHI)
  • Variant & Polymorphism SNP
  • increasing the risk of type 2 diabetes
  • heterozygous p.Tyr528His variant segregated completely with late-onset HI in which hearing deteriorated first at high frequencies and progressed to mid and low frequencies later in life
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Wfs1-null mouse exhibits progressive insulin deficiency causing diabetes
  • mice with disrupted WFS1 exhibit progressive pancreatic beta cell loss, resulting from the activation of ER stress pathways, delayed cell cycle progression and apoptosis