Symbol
| WFS1
| contributors: mct - updated : 06-11-2018
|
HGNC name
| Wolfram syndrome 1 (wolframin)
|
HGNC id
| 12762
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein 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
| | | |
| 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 |