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FLASH GENE
Symbol ACTA2 contributors: mct/npt - updated : 04-11-2015
HGNC name actin, alpha 2, smooth muscle, aorta
HGNC id 130
ASSOCIATED DISORDERS
corresponding disease(s) TAAD4 , MYMY5 , MSMD1
Susceptibility
  • to occlusive vascular diseases, specifically premature coronary artery disease
  • to Moyamoya disease [MMD]
  • Variant & Polymorphism other inappropriate proliferation of Smooth muscle cells as a result of an ACTA2 mutation may represent a novel pathogenetic pathway contributing to occlusive vascular disease (Guo 2009)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Acta2(-/-) mice showed increased neointimal formation following vascular injury
  • Acta2 deficient mice have a remarkable mammary phenotype such that dams lacking Acta2 are unable to nurse their offspring effectively