ACTC1 actin alpha cardiac muscle 1
Gene ID: 70, updated on 29-Mar-2023Gene type: protein coding
Also known as: ACTC; ASD5; CMD1R; CMH11; LVNC4
- See all available tests in GTR for this gene
- Go to complete Gene record for ACTC1
- Go to Variation Viewer for ACTC1 variants
Summary
Actins are highly conserved proteins that are involved in various types of cell motility. Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to four others. The protein encoded by this gene belongs to the actin family which is comprised of three main groups of actin isoforms, alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. Defects in this gene have been associated with idiopathic dilated cardiomyopathy (IDC) and familial hypertrophic cardiomyopathy (FHC). [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14. GeneReviews: Not available | |
| A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants. GeneReviews: Not available | |
| Atrial septal defect 5 | See labs |
| Dilated cardiomyopathy 1R | See labs |
| Hypertrophic cardiomyopathy 11 | See labs |
| Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. GeneReviews: Not available | |
| Primary dilated cardiomyopathy MedGen: C0007193GeneReviews: Dilated Cardiomyopathy Overview | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2015-11-17) ClinGen Genome Curation PageHaploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2015-11-17) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 15q14
- Sequence:
- Chromosome: 15; NC_000015.10 (34790230..34795549, complement)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | GeneView ReportGo to Variation Viewer for ACTC1 variants |
| 1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- ACTC1 homepage - Leiden Muscular Dystrophy pages
- BioSystemsBioSystems
- 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
- SNP: GeneViewSNPs linked from GeneView
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