ACTA1 actin alpha 1, skeletal muscle
Gene ID: 58, updated on 3-Nov-2024Gene type: protein coding
Also known as: ACTA; ASMA; CFTD; MPFD; NEM1; NEM2; NEM3; SHPM; CFTD1; CFTDM; CMYO2A; CMYO2B; CMYO2C; CMYP2A; CMYP2B; CMYP2C
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- Go to complete Gene record for ACTA1
- Go to Variation Viewer for ACTA1 variants
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. [provided by RefSeq, Sep 2019]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia. GeneReviews: Not available | |
| Actin accumulation myopathy | See labs |
| Congenital myopathy 2b, severe infantile, autosomal recessive | See labs |
| Congenital myopathy 2c, severe infantile, autosomal dominant | See labs |
| Congenital myopathy with fiber type disproportion MedGen: C0546264GeneReviews: Not available | See labs |
| Progressive scapulohumeroperoneal distal myopathy | See labs |
Genomic context
- Location:
- 1q42.13
- Sequence:
- Chromosome: 1; NC_000001.11 (229431245..229434094, complement)
- Total number of exons:
- 7
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ACTA1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ACTA1 homepage - Leiden Muscular Dystrophy pages
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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