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FLASH GENE
Symbol VLDLR contributors: mct - updated : 28-02-2015
HGNC name very low density lipoprotein receptor
HGNC id 12698
ASSOCIATED DISORDERS
corresponding disease(s) CHQL1
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral   deletion --low  
deletion or low expression in gastric cancer
constitutional       loss of function
leads to retinal degeneration and inflammation
Susceptibility
  • may be late onset senile Alzheimer disease
  • to osteoporosis
  • to Carotid artery disease (Crawford 2008)
  • Variant & Polymorphism repeat CGG repeats >8 increasing the BMD in men
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cardiovascular  
    MYLIP inhibitors aimed at increasing LDLR abundance in therapeutic strategies to treat cardiovascular disease
    ANIMAL & CELL MODELS
  • VLDLR knockout mice show overgrown intraretinal vasculature and subretinal neovascularization
  • Vldlr-deficient mice exhibited decreased hepatic steatosis upon high-fat diet feeding
  • homozygous r26/r26 mice displayed depigmented patches in the retina fundus that overlapped the hyperfluorescent spots in the angiogram