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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

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