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	HGNC	UniGene	Nucleotide	OMIM	UCSC

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FLASH GENE

Symbol

CASP3

contributors: mct/ - updated : 25-11-2015

HGNC name	caspase 3, apoptosis-related cysteine peptidase
HGNC id	1504

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   in prostate cancer (in progression) tumoral somatic mutation       in colon and lung carcinoma

Susceptibility

to lung cancer to Kawasaki disease

Variant & Polymorphism other	GAGC haplotype carrying the variant allele at all of the -928A > G, 77G > A, and 17532A > C loci was associated with a significantly decreased risk of lung cancer compared to the AGGA haplotype carrying no variant alleles
	G to A substitution of one commonly associated SNP located in the 5&
	8242; untranslated region of CASP3 (rs72689236) increases risk of Kawasaki disease

Candidate gene
Marker
Therapy target	mutation V266E activates CASP3 in absence of chain cleavage and is uninhibitable, and thus may lead to novel therapeutic strategies for inducing cell death

ANIMAL & CELL MODELS