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CMYO2C
Chr 1actin alpha 1, skeletal muscle
Also known as: ACTA, ASMA, CFTD, CFTD1, CFTDM, CMYO2A, CMYO2B, CMYO2C
The protein is an alpha actin found in skeletal muscle that serves as a major constituent of the contractile apparatus essential for muscle contraction. Mutations cause congenital myopathy 2C with severe infantile onset, leading to muscle fiber defects and hypotonia. This condition follows autosomal dominant inheritance.
Some data sources returned errors (3)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/CMYO2C?content-type=application/json&expand=1
gnomad: Error: Gene not found
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CMYO2C · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No publications found for CMYO2C
External Resources
Links to major genomics databases and tools