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FLASH GENE

Symbol

LRP6

contributors: mct - updated : 02-06-2017

HGNC name	low density lipoprotein receptor-related protein 6
HGNC id	6698

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

CADO , OLD3

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   in leukemia, by hypermethylation tumoral     --low   sufficient to inhibit breast cancer tumorigenesis constitutional     --over   colocalizes with PDGFRB and is expressed abundantly in atherosclerotic lesions ( constitutional       loss of function in hyperlipidemia

Susceptibility

to premature coronary artery disease

Variant & Polymorphism other	LRP6R611C mutation with a dominant-negative effects on the inhibition of PDGFRB, linked to a form of premature coronary artery disease

Candidate gene	plausible candidate genes for SHFM
Marker
Therapy target
	System Type Disorder Pubmed cancer reproductive breast potential therapeutic target in breast cancer, and introduce Mesd (LRP6 antagonist) as a promising antitumor agent for treating breast cancer subtypes with Wnt activation at the cell surface metabolism lipid   potential target for development of novel therapeutics in hyperlipidemia

ANIMAL & CELL MODELS

in Lrp6 mutant mice, the mechanism of birth defect prevention by Folic acid supplementation (reduction of neural tube defects occurrence by amelioration versus increased embryonic loss) can vary not only with the genes associated with increased risk, but also with the type of mutation within those genes (i.e. loss or gain of function )