Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Ensembl
	HGNC	UniGene	Nucleotide	OMIM	UCSC

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FLASH GENE

Symbol

APEX1

contributors: mct/pgu - updated : 06-04-2013

HGNC name	APEX nuclease (multifunctional DNA repair enzyme) 1
HGNC id	587

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     --over   in human pancreatic cancer cells constitutional     --low   its depletion causes chromosome segregation defects and telomere dysfunction

Susceptibility

susceptibility gene for SLA

Variant & Polymorphism

Candidate gene
Marker	polymorphism in the gene APEX1 may be indicated as a potential marker for prostate cancer risk
Therapy target
	System Type Disorder Pubmed cancer digestive pancreas E3330, inhibitor of APEX1 has therapeutic potential in pancreatic cancer neurosensorial visual degenerative may have potential as a therapeutic target for treating neovascular age-related macular degeneration and other neovascular diseases

ANIMAL & CELL MODELS

	Ref1 -/- mice died during embryonic development following blastocyst formation after implantation
	APE1+/- mice are Ape haploinsufficient with a 40 to 50% reduction in Ape mRNA, protein, and 5-prime endonuclease activity in liver, brain and testis