ACTA1 Chromosome 1
Actin alpha 1, skeletal muscle
Upload your DNA to see your personal genotypes for variants in ACTA1.
What This Gene Does
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. [provided by RefSeq, Sep 2019]
Gene Info
Gene Group
Actins
Locus Type
gene with protein product
Location
1q42.13
Ensembl
ENSG00000143632
Associated Conditions (34)
Actin accumulation myopathy
Familial restrictive cardiomyopathy
Congenital myopathy with fiber type disproportion
ACTA1-related disorder
Congenital myopathy 4A
autosomal dominant
Progressive scapulohumeroperoneal distal myopathy
Congenital myopathy 2c
severe infantile
Abnormality of the musculature
Alpha-actinopathy
Myopathy
Nemaline myopathy
Inborn genetic diseases
Neuromuscular disease
ACTA1-related myopathies
Congenital myopathy
Centronuclear myopathy
Nemaline myopathy 3
autosomal dominant or recessive
+14 more conditions
Key Variants
RS1253964609
Conflicting classifications of pathogenicity
Actin accumulation myopathy, Actin accumulation myopathy
Health Risk
RS140074813
Conflicting classifications of pathogenicity
Familial restrictive cardiomyopathy, Actin accumulation myopathy, Congenital myopathy with fiber type disproportion
Health Risk
RS141030526
Conflicting classifications of pathogenicity
Actin accumulation myopathy, Congenital myopathy with fiber type disproportion, Familial restrictive cardiomyopathy
Health Risk
RS143948837
Conflicting classifications of pathogenicity
Actin accumulation myopathy, Familial restrictive cardiomyopathy, Congenital myopathy with fiber type disproportion
Health Risk
RS1553255361
Conflicting classifications of pathogenicity
Actin accumulation myopathy, Congenital myopathy 4A, autosomal dominant
Health Risk
RS1558081797
Conflicting classifications of pathogenicity
Actin accumulation myopathy, Congenital myopathy 2c, severe infantile
Health Risk
RS1659932688
Conflicting classifications of pathogenicity
Actin accumulation myopathy, Familial restrictive cardiomyopathy, Congenital myopathy with fiber type disproportion
Health Risk
RS1659945481
Conflicting classifications of pathogenicity
Actin accumulation myopathy, Actin accumulation myopathy
Health Risk
RS1659954399
Conflicting classifications of pathogenicity
Abnormality of the musculature, Actin accumulation myopathy, Abnormality of the musculature
Health Risk
RS1659962077
Conflicting classifications of pathogenicity
Congenital myopathy with fiber type disproportion, Actin accumulation myopathy, Congenital myopathy with fiber type disproportion
Health Risk
RS1659986880
Conflicting classifications of pathogenicity
Actin accumulation myopathy, Actin accumulation myopathy
Health Risk
RS371410845
Conflicting classifications of pathogenicity
Progressive scapulohumeroperoneal distal myopathy, Actin accumulation myopathy, Congenital myopathy with fiber type disproportion
Health Risk
All Variants (197)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2102736554 | Health Risk | Pathogenic | Actin accumulation myopathy, Congenital myopathy 2c, severe infantile |
| RS2102736562 | Health Risk | Pathogenic | Actin accumulation myopathy, Actin accumulation myopathy, Actin accumulation myopathy |
| RS2527435672 | Health Risk | Pathogenic | Actin accumulation myopathy, Actin accumulation myopathy |
| RS2527436174 | Health Risk | Pathogenic | Actin accumulation myopathy, Actin accumulation myopathy |
| RS2527436245 | Health Risk | Pathogenic | Myopathy, Myopathy |
| RS2527436292 | Health Risk | Pathogenic | Congenital myopathy 2c, severe infantile, autosomal dominant |
| RS2527437067 | Health Risk | Pathogenic | Actin accumulation myopathy, Actin accumulation myopathy |
| RS2527437313 | Health Risk | Pathogenic | ACTA1-related disorder, Nemaline myopathy, ACTA1-related disorder |
| RS2527437435 | Health Risk | Pathogenic | Actin accumulation myopathy, Actin accumulation myopathy |
| RS2527437709 | Health Risk | Pathogenic | Actin accumulation myopathy, Actin accumulation myopathy |
| RS2527437872 | Health Risk | Pathogenic | — |
| RS2527437890 | Health Risk | Pathogenic | Actin accumulation myopathy, Alpha-actinopathy, Actin accumulation myopathy |
| RS2527438087 | Health Risk | Pathogenic | Nemaline myopathy, Nemaline myopathy |
| RS2527439036 | Health Risk | Pathogenic | Actin accumulation myopathy, Actin accumulation myopathy |
| RS2527439193 | Health Risk | Pathogenic | Actin accumulation myopathy, Actin accumulation myopathy |
| RS2527439205 | Health Risk | Pathogenic | Actin accumulation myopathy, Actin accumulation myopathy |
| RS2527439283 | Health Risk | Pathogenic | Nemaline myopathy, Nemaline myopathy |
| RS2527439378 | Health Risk | Pathogenic | Actin accumulation myopathy, Actin accumulation myopathy |
| RS2527440117 | Health Risk | Pathogenic | Actin accumulation myopathy, Actin accumulation myopathy |
| RS372686280 | Health Risk | Pathogenic | Actin accumulation myopathy, Alpha-actinopathy, Actin accumulation myopathy |
| RS398122936 | Health Risk | Pathogenic | Congenital myopathy 2c, severe infantile, autosomal dominant |
| RS587780272 | Health Risk | Pathogenic | Nemaline myopathy 3, autosomal dominant or recessive, Nemaline myopathy 3 |
| RS759242559 | Health Risk | Pathogenic | Actin accumulation myopathy, Congenital myopathy 2b, severe infantile |
| RS772124885 | Health Risk | Pathogenic | Actin accumulation myopathy, Actin accumulation myopathy |
| RS869312739 | Health Risk | Pathogenic | Progressive scapulohumeroperoneal distal myopathy, Actin accumulation myopathy, Progressive scapulohumeroperoneal distal myopathy |
| RS1057521118 | Health Risk | Pathogenic/Likely pathogenic | Actin accumulation myopathy, Actin accumulation myopathy |
| RS1057521119 | Health Risk | Pathogenic/Likely pathogenic | Actin accumulation myopathy, Actin accumulation myopathy |
| RS1057521120 | Health Risk | Pathogenic/Likely pathogenic | Actin accumulation myopathy, Progressive scapulohumeroperoneal distal myopathy, Actin accumulation myopathy |
| RS1064794652 | Health Risk | Pathogenic/Likely pathogenic | Actin accumulation myopathy, Actin accumulation myopathy |
| RS121909519 | Health Risk | Pathogenic/Likely pathogenic | Actin accumulation myopathy, ACTA1-related myopathies, Congenital myopathy 2b |
| RS121909523 | Health Risk | Pathogenic/Likely pathogenic | Actin accumulation myopathy, ACTA1-related myopathies, Congenital myopathy with fiber type disproportion |
| RS1246861211 | Health Risk | Pathogenic/Likely pathogenic | Non-immune hydrops fetalis, Actin accumulation myopathy, Non-immune hydrops fetalis |
| RS1395648272 | Health Risk | Pathogenic/Likely pathogenic | Actin accumulation myopathy, Congenital myopathy 2b, severe infantile |
| RS1435160117 | Health Risk | Pathogenic/Likely pathogenic | Actin accumulation myopathy, Actin accumulation myopathy, Actin accumulation myopathy |
| RS1553255362 | Health Risk | Pathogenic/Likely pathogenic | Nemaline myopathy 3, autosomal dominant or recessive, Neurodevelopmental delay |
| RS1558081624 | Health Risk | Pathogenic/Likely pathogenic | Actin accumulation myopathy, Congenital myopathy, Primary dilated cardiomyopathy |
| RS1659973563 | Health Risk | Pathogenic/Likely pathogenic | Actin accumulation myopathy, Actin accumulation myopathy |
| RS1659978452 | Health Risk | Pathogenic/Likely pathogenic | Actin accumulation myopathy, Actin accumulation myopathy |
| RS1659978909 | Health Risk | Pathogenic/Likely pathogenic | Actin accumulation myopathy, Actin accumulation myopathy |
| RS2527436311 | Health Risk | Pathogenic/Likely pathogenic | Actin accumulation myopathy, Congenital myopathy 2c, severe infantile |
| RS2527437739 | Health Risk | Pathogenic/Likely pathogenic | Congenital myopathy 2c, severe infantile, autosomal dominant |
| RS2527438844 | Health Risk | Pathogenic/Likely pathogenic | Neuromuscular disease, Actin accumulation myopathy, Fetal akinesia deformation sequence |
| RS367543048 | Health Risk | Pathogenic/Likely pathogenic | Congenital myopathy with fiber type disproportion, Actin accumulation myopathy, Progressive scapulohumeroperoneal distal myopathy |
| RS367543049 | Health Risk | Pathogenic/Likely pathogenic | Congenital myopathy with fiber type disproportion, Actin accumulation myopathy, Congenital myopathy |
| RS398123562 | Health Risk | Pathogenic/Likely pathogenic | Actin accumulation myopathy, Actin accumulation myopathy |
| RS753923758 | Health Risk | Pathogenic/Likely pathogenic | Actin accumulation myopathy, Actin accumulation myopathy |
| RS886039557 | Health Risk | Pathogenic/Likely pathogenic | Actin accumulation myopathy, Actin accumulation myopathy |