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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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
	System Type Disorder Pubmed neuromuscular myopathy   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