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FLASH GENE
Symbol CALM3 contributors: mct - updated : 10-05-2019
HGNC name calmodulin 3 (phosphorylase kinase, delta)
HGNC id 1449
ASSOCIATED DISORDERS
corresponding disease(s) LQT16
Susceptibility
  • to variations in the BMD of the hip, spine and femoral neck
  • to hypertrophic (HCM) and dilated cardiomyopathies (DCM)
  • to familial hypertrophic cardiomyopathy (FHC)
  • Variant & Polymorphism other
  • SNP rs12461917, and rs11083838 in the 3'-flanking region of the CALM3 in Caucasian women may contribute to variations in the BMD of the hip, spine and femoral neck
  • -34T>A CALM3 polymorphism is a modifier gene for FHC, potentially by affecting expression level of CALM3 and therefore Ca(2+)-handling and development of hypertrophy
  • polymorphisms are associated with increased risk of HCM and DCM and may act as disease modifier
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS