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FLASH GENE
Symbol ACTC1 contributors: SGE/npt - updated : 13-07-2010
HGNC name actin, alpha, cardiac muscle 1
HGNC id 143
ASSOCIATED DISORDERS
corresponding disease(s) CMD1R , ASD5 , CMH11
Susceptibility
Variant & Polymorphism
Candidate gene
  • marker of fibrosis progression after hepatitis B infection
  • E101K mutation in two probands of left ventricular non compaction 4 (Klaassen 2008)
  • Marker
    Therapy target
    SystemTypeDisorderPubmed
    neuromuscularmyopathy 
    its over-expression in postnatal skeletal muscle can significantly lessen the disease severity of at least one dominant ACTA1 mutation: p.D286G
    ANIMAL & CELL MODELS