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FLASH GENE

Symbol

APAF1

contributors: mct/npt/pgu - updated : 05-06-2015

HGNC name	apoptotic peptidase activating factor 1
HGNC id	576

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   associated with tumour progression and adverse prognosis in colorectal cancer tumoral     --over   is related to an undifferentiated state in the testicular germ cell tumor pathway constitutional       loss of function results in an accumulation of neural progenitor cells (NPCs) in the developing central nervous system and thus, in perinatal lethality constitutional     --low   APAF1-deficient cells are less prone to developing aggregates than are wild-type cells, thereby supporting the involvement of APAF1 in a mammalian model of polyQ-related diseases

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed neurology neurodegenerative huntington chorea minocycline inhibits cell death and decreases mutant Huntingtin aggregation by targeting APAF1

ANIMAL & CELL MODELS

	murine Apaf1 null die at E16.5 day with craniofacial malformation, brain overgrowth, lens and retina alteration but persistence of interdigital webs and reduced apoptosis in fibroblasts
	a Drosophila model of Huntington disease shows that inactivation of the dark gene (Drosophila Apaf-1 related killer) suppresses the formation of polyQ aggregates and diminishes the associated pathogenesis