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FLASH GENE
Symbol ADRB1 contributors: mct - updated : 15-09-2016
HGNC name adrenergic, beta-1-, receptor
HGNC id 285
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --low  
of 2 transcripts in heart failure
constitutional     --over  
in infantile hemangioma (IH) independent of the proliferative or regressive phase
Susceptibility to takotsubo cardiomyopathy (TTC)
Variant & Polymorphism
  • no apparent association of the C1165G variant with idiopathic cardiomyopathy
  • Arg389 predisposing to heart failure, in hypertrophic cardiomyopathy, allele Gly-Gly having protective effect
  • Arg389Gly influencing the pathophysiology of OAG in Japanese patients
  • association between TTC phenotype and beta1 adrenoreceptor gene polymorphisms
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS