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FLASH GENE

Symbol

PHACTR1

contributors: mct - updated : 15-04-2019

HGNC name	phosphatase and actin regulator 1
HGNC id	20990

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

EIEE70

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in carotid plaques compared with normal carotid arteries

Susceptibility

to coronary artery disease (CAD) to coronary artery disease (CAD) events in familial hypercholesterolemia to fibromuscular dysplasia (FMD)

Variant & Polymorphism SNP	variant (rs9349379) is associated with coronary artery disease (CAD)
	rs12526453 SNP of the PHACTR1 gene is significantly associated with a 50 p100 reduction in the odds of coronary artery disease (CAD) events in familial hypercholesterolemia (FH)

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed miscelleaneous vascular   may represent a new target for the development of anti-angiogenic therapy

ANIMAL & CELL MODELS