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FLASH GENE
Symbol LRP2 contributors: mct - updated : 07-03-2015
HGNC name low density lipoprotein-related protein 2
HGNC id 6694
ASSOCIATED DISORDERS
corresponding disease(s) FOAR
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --over  
major autoantigen in rhumatoid arthritis
constitutional     --low  
in diabetic nephropathy, involved in the development of proteinuria/albuminuria
Susceptibility
  • to diabetic and metabolic syndrome-related nephropathies
  • to autism spectrum disorder (ASD)
  • to diabetes-associated end stage renal disease
  • Variant & Polymorphism SNP
  • clusters of rare DRVs associated with ASD
  • LRP2 rare variant associated with diabetes-associated end stage renal disease
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    knockout mice, lacking LRP2, lose 25 (OH) D3 in the urine and develop severe bone disease