Gene: ACTA1

Alternate names for this Gene: ACTA|ASMA|CFTD|CFTD1|CFTDM|MPFD|NEM1|NEM2|NEM3|SHPM

Gene Summary: The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause a variety of myopathies, including nemaline myopathy, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects with manifestations such as hypotonia.

Gene is located in Chromosome: 1

Location in Chromosome : 1q42.13

Description of this Gene: actin alpha 1, skeletal muscle

Type of Gene: protein-coding

rs1057521118 in ACTA1 gene and Actin-Accumulation Myopathy PMID 10508519 1999 Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.

PMID 11333380 2001 Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.

PMID 22442437 2012 Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation.

PMID 16945537 2006 Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation.

PMID 22510848 2012 Clinical utility gene card for: nemaline myopathy.

PMID 17705262 2007 Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness.

PMID 15336687 2004 Follow-up of nemaline myopathy in two patients with novel mutations in the skeletal muscle alpha-actin gene (ACTA1).

PMID 16427282 2006 Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred.

PMID 23650303 2013 Nemaline myopathy with dilated cardiomyopathy in childhood.

PMID 15236405 2004 Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.

PMID 15520409 2004 Missense mutations of ACTA1 cause dominant congenital myopathy with cores.

PMID 15198992 2004 Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms.

PMID 11166164 2001 Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene.

PMID 25938801 2015 Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family.

PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.

PMID 15226407 2004 Myopathy mutations in alpha-skeletal-muscle actin cause a range of molecular defects.

PMID 16945536 2006 Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1).

PMID 24787270 2015 Hypoxic ischemic encephalopathy in a case of intranuclear rod myopathy without any prenatal sentinel event.

PMID 12921789 2003 Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).

PMID 19562689 2009 Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).

PMID 24852243 2014 Deep sequencing detects very-low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy.

PMID 20303757 2010 Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1.

PMID 23394784 2013 Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom.

PMID 25214167 2014 MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.

PMID 24642510 2014 Congenital fiber type disproportion myopathy caused by LMNA mutations.

PMID 27447704 2017 Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic.

PMID 26172852 2016 Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations.

PMID 2462510 1988 Diffusion of fluorescein-labelled molecules in suspensions of erythrocyte ghosts.

PMID 2617852 1989 Cognitive expectations, not habits, control anticipatory smooth oculomotor pursuit.

PMID 25470062 2015 Structure of the F-actin-tropomyosin complex.

PMID 27854218 2016 Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

rs121909529 in ACTA1 gene and Congenital Fiber Type Disproportion PMID 15468086 2004 Actin mutations are one cause of congenital fibre type disproportion.

PMID 17387733 2007 The pathogenesis of ACTA1-related congenital fiber type disproportion.

rs1553255354 in ACTA1 gene and Dysmorphic features PMID 16967490 2007 Variable presentation of nemaline myopathy: novel mutation of alpha actin gene.

PMID 19562689 2009 Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).

PMID 26507755 2015 Review of Cardiac Disease in Nemaline Myopathy.

PMID 12601110 2003 Clinical course correlates poorly with muscle pathology in nemaline myopathy.

PMID 15468086 2004 Actin mutations are one cause of congenital fibre type disproportion.

PMID 23650303 2013 Nemaline myopathy with dilated cardiomyopathy in childhood.

PMID 15236405 2004 Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.

PMID 11333380 2001 Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.

PMID 25890230 2015 Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature.

rs869312739 in ACTA1 gene and MYOPATHY, SCAPULOHUMEROPERONEAL PMID 25938801 2015 Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family.

rs1553255354 in ACTA1 gene and Muscle hypotonia PMID 26507755 2015 Review of Cardiac Disease in Nemaline Myopathy.

PMID 11333380 2001 Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.

PMID 15468086 2004 Actin mutations are one cause of congenital fibre type disproportion.

PMID 19562689 2009 Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).

PMID 23650303 2013 Nemaline myopathy with dilated cardiomyopathy in childhood.

PMID 25890230 2015 Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature.

PMID 12601110 2003 Clinical course correlates poorly with muscle pathology in nemaline myopathy.

PMID 15236405 2004 Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.

PMID 16967490 2007 Variable presentation of nemaline myopathy: novel mutation of alpha actin gene.

rs121909525 in ACTA1 gene and Neuromuscular Diseases PMID 15226407 2004 Myopathy mutations in alpha-skeletal-muscle actin cause a range of molecular defects.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 19562689 2009 Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).

PMID 17227580 2007 Phenotypes of myopathy-related actin mutants in differentiated C2C12 myotubes.

PMID 25470062 2015 Structure of the F-actin-tropomyosin complex.

PMID 12921789 2003 Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).