Gene: LOC101928174

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: ACTC1

Alternate names for this Gene: ACTC|ASD5|CMD1R|CMH11|LVNC4

Gene 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).

Gene is located in Chromosome: 15

Location in Chromosome : 15q14

Description of this Gene: actin alpha cardiac muscle 1

Type of Gene: protein-coding

rs121912677 in LOC101928174;ACTC1 gene and Atrial Septal Defect 5 PMID 17947298 2008 Alpha-cardiac actin mutations produce atrial septal defects.

rs121912674 in LOC101928174;ACTC1 gene and CARDIOMYOPATHY, DILATED, 1R PMID 9563954 1998 Actin mutations in dilated cardiomyopathy, a heritable form of heart failure.

rs121912675 in LOC101928174;ACTC1 gene and Cardiomyopathy, Familial Hypertrophic, 11 PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 14729850 2004 Clinical and genetic characteristics of alpha cardiac actin gene mutations in hypertrophic cardiomyopathy.

PMID 18403758 2008 Shared genetic causes of cardiac hypertrophy in children and adults.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 10966831 2000 Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy.

PMID 10330430 1999 Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy.

PMID 21267010 2011 Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).

rs730880404 in LOC101928174;ACTC1 gene and Hypertrophic Cardiomyopathy PMID 22563033 2012 Prevalence and clinical profile of myocardial crypts in hypertrophic cardiomyopathy.

PMID 25239116 2014 Advanced heart failure with preserved systolic function in nonobstructive hypertrophic cardiomyopathy: under-recognized subset of candidates for heart transplant.

PMID 21839045 2012 Double or compound sarcomere mutations in hypertrophic cardiomyopathy: a potential link to sudden death in the absence of conventional risk factors.