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actin, alpha cardiac muscle 1; alpha-cardiac actin (ACTC1, ACTC)
Function:
- alpha actin with role in cardiac muscle contraction
Structure: belongs to the actin family
Compartment: cytoplasm, cytoskeleton
Pathology:
- defects in ACTC1 are the cause of
a) dilated cardiomyopathy type 1R
b) familial hypertrophic cardiomyopathy type 11
c) atrial septal defect type 5
General
alpha actin
Properties
SIZE: entity length = 377 aa
MW = 42 kD
COMPARTMENT: cytoplasm
MOTIF: coiled coil
Database Correlations
OMIM correlations
UniProt P68032
Pfam PF00022
Entrez Gene 70
Kegg hsa:70; -.
References
- UniProt :accession P68032
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/ACTC1