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FLASH GENE
Symbol SEL1L contributors: mct - updated : 17-01-2013
HGNC name sel-1 suppressor of lin-12-like (C. elegans)
HGNC id 10717
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein 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
    ANIMAL & CELL MODELS
  • 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