ACTA1


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ACTA1

A gene on chromosome 1q42.13 that encodes alpha actin 1, which is expressed in skeletal muscle. 

Molecular pathology
ACTA1 mutations cause nemaline myopathy type 3, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores and congenital myopathy with fibre-type disproportion.
References in periodicals archive ?
The researchers suggested that mutations to the ACTA1 gene cause a rare but serious myopathy or muscular disease.Most patients die within the first year of life and some are born almost completely paralyzed.
Lead researcher Nowak showed that mice lacking ACTA1 died within nine days after birth.
Nonspecific antibody binding sites were blocked with 10% goat serum (Sigma-Aldrich) before overnight incubation at 4[degrees]C with primary antibodies: ACTA1, GATA-4, OCT-4, NKX2-5 (all Abcam, Cambridge, UK), CX43, KDR (all Millipore, MA, USA), and vimentin (Santa Cruz Biotechnology, Dallas, TX, USA).
The SLA allele genotyping comprises 47 primer pairs for SLA class I alleles (SLA-1, SLA-3, SLA-2), 47 primer pairs for SLA class II alleles (DRB1, DQB1, DQA) and positive control primers for the porcine [alpha]-actin (ACTA1 gene) (Supplementary Table 1) (Ho et al., 2009a; 2010).
The bHLH MyoD transcription factor initiates a differentiation program through association with E proteins (i.e., the E2A gene products, E12, E47, and HEB) by creating a heterodimer for the consensus E-box regulatory sequences on muscle-specific genes (myogenin, which is expressed at a more differentiated stage, Acta1, Lsp1, Mef2c, Tnnc2, Tnni2, Tnnt3, etc.) [54, 55].