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FLASH GENE

Symbol

LDLR

contributors: mct/pgu - updated : 26-01-2018

HGNC name	low density lipoprotein receptor (familial hypercholesterolemia)
HGNC id	6547

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

LDLR

related resource

Hypercholesterolemia, Familial Low Density Lipoprotein Receptor Mutation Database

Susceptibility

to migraine without aura to cerebral infarction

Variant & Polymorphism other	G142A polymorphism increases the risk of migraine without aura
	haplotypes rs688 and rs5925 provided preliminary evidence suggesting that genetic polymorphisms of LDLR are associated with cerebral infarction

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

in c-IAP1 null mouse embryonic fibroblasts (MEFs), there is a dramatic decrease in secreted mature PCSK9 protein accompanied by a significant increase in LDLR protein levels compared with matched wild-type MEF cells