Symbol
| SEL1L
| contributors: mct - updated : 17-01-2013
|
HGNC name
| sel-1 suppressor of lin-12-like (C. elegans)
|
HGNC id
| 10717
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
tumoral
|  
|  
| --low
|  
|
in breast carcinoma with aggressiveness and in pancreatic carcinoma | constitutional
|  
|  
|  
|  
|
MODY3(modifier of MODY3) | |
Susceptibility
|
to Alzheimer's disease |
Variant & Polymorphism
SNP
| a new polymorphism within the SEL1L intron 3 (IVS3-88 A>G) in Alzheimer's disease |
|
|
Candidate gene
Marker
Therapy target
| | | |
| mouse embryonic fibroblast cells deficient in SEL1L exhibited activated unfolded protein response at the basal state, impaired ER-associated protein degradation, and reduced protein secretion |