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FLASH GENE
Symbol ITPR3 contributors: mct - updated : 04-02-2017
HGNC name inositol 1,4,5-triphosphate receptor, type 3
HGNC id 6182
ASSOCIATED DISORDERS
corresponding disease(s)
Susceptibility
  • to systemic lupus erythematosus (SLE)
  • to developing coronary artery aneurysm (CAA)in children with Kawasaki disease
  • Variant & Polymorphism SNP
  • SNPs related to an increased risk for SLE
  • rs2229634 SNP in the ITPR3 gene is associated with the risk of CAA formation in Taiwanese Kawasaki disease patients
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Itpr3(-/-) mice had prominent alopecia, which was characterized by repeated hair loss and regrowth