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FLASH GENE

Symbol

CASP8

contributors: mct/np - updated : 03-07-2019

HGNC name	caspase 8, apoptosis-related cysteine peptidase
HGNC id	1509

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

CASP8D

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral       loss of function in neuroblastoma tumoral somatic mutation       mutation 1225_1226delTG might lead to the loss of cell death function and contribute to the pathogenesis of hepatocellular carcinomas tumoral somatic mutation     loss of function inactivated by somatic mutations in advanced gastric carcinomas constitutional       loss of function prevented CYLD degradation, resulting in necrotic death

Susceptibility

contribute to an inherited predisposition to SmCC (small cell carcinoma) of the lung to breast cancer to Alzheimer disease

Variant & Polymorphism SNP	polymorphisms D302H significantly associated with a highly decreased familial breast cancer risk
	for CASP8 variants, p.K148R and p.I298V, the association remained significant with Alzheimer disease

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

caspase-8-deficient mice exhibit inflammatory skin disorders due to unregulated activation and accumulation of active IRF3