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

Gene: LOC101928174

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

rs121912673 in ACTC1;LOC101928174 gene and Atrial Septal Defect 5 PMID 24736382 2014 Altered interactions between cardiac myosin binding protein-C and α-cardiac actin variants associated with cardiomyopathies.

PMID 22590617 2012 Subdomain location of mutations in cardiac actin correlate with type of functional change.

PMID 19799913 2010 Human actin mutations associated with hypertrophic and dilated cardiomyopathies demonstrate distinct thin filament regulatory properties in vitro.

PMID 9563954 1998 Actin mutations in dilated cardiomyopathy, a heritable form of heart failure.

PMID 23283745 2013 Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.

PMID 21622575 2011 Molecular mechanism of the E99K mutation in cardiac actin (ACTC Gene) that causes apical hypertrophy in man and mouse.

PMID 17611253 2007 Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects.

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

PMID 16611632 2006 Functional consequences of a mutation in an expressed human alpha-cardiac actin at a site implicated in familial hypertrophic cardiomyopathy.

rs121912673 in ACTC1;LOC101928174 gene and CARDIOMYOPATHY, DILATED, 1R PMID 9563954 1998 Actin mutations in dilated cardiomyopathy, a heritable form of heart failure.

PMID 22590617 2012 Subdomain location of mutations in cardiac actin correlate with type of functional change.

PMID 24736382 2014 Altered interactions between cardiac myosin binding protein-C and α-cardiac actin variants associated with cardiomyopathies.

PMID 23283745 2013 Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.

PMID 19799913 2010 Human actin mutations associated with hypertrophic and dilated cardiomyopathies demonstrate distinct thin filament regulatory properties in vitro.

PMID 17611253 2007 Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects.

PMID 16611632 2006 Functional consequences of a mutation in an expressed human alpha-cardiac actin at a site implicated in familial hypertrophic cardiomyopathy.

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

PMID 21622575 2011 Molecular mechanism of the E99K mutation in cardiac actin (ACTC Gene) that causes apical hypertrophy in man and mouse.

rs727504379 in ACTC1;LOC101928174 gene and Cardiomyopathy, Dilated PMID 25201647 2014 Familial left ventricular noncompaction associated with a novel mutation in the alpha-cardiac actin gene.

rs121912673 in ACTC1;LOC101928174 gene and Cardiomyopathy, Familial Hypertrophic, 11 PMID 9563954 1998 Actin mutations in dilated cardiomyopathy, a heritable form of heart failure.

PMID 23283745 2013 Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.

PMID 24736382 2014 Altered interactions between cardiac myosin binding protein-C and α-cardiac actin variants associated with cardiomyopathies.

PMID 19799913 2010 Human actin mutations associated with hypertrophic and dilated cardiomyopathies demonstrate distinct thin filament regulatory properties in vitro.

PMID 22590617 2012 Subdomain location of mutations in cardiac actin correlate with type of functional change.

PMID 17611253 2007 Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects.

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 21622575 2011 Molecular mechanism of the E99K mutation in cardiac actin (ACTC Gene) that causes apical hypertrophy in man and mouse.

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

PMID 16267253 2005 Gene mutations in apical hypertrophic cardiomyopathy.

PMID 16611632 2006 Functional consequences of a mutation in an expressed human alpha-cardiac actin at a site implicated in familial hypertrophic cardiomyopathy.

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

PMID 18506004 2008 Mutations in sarcomere protein genes in left ventricular noncompaction.

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

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

rs193922680 in ACTC1;LOC101928174 gene and Hypertrophic Cardiomyopathy PMID 17611253 2007 The E101K mutation in the alpha-cardiac actin gene (ACTC) has been associated with apical hypertrophic cardiomyopathy (HCM).

PMID 16611632 2006 Functional consequences of a mutation in an expressed human alpha-cardiac actin at a site implicated in familial hypertrophic cardiomyopathy.

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

PMID 21622575 2011 Molecular mechanism of the E99K mutation in cardiac actin (ACTC Gene) that causes apical hypertrophy in man and mouse.

PMID 19799913 2010 Human actin mutations associated with hypertrophic and dilated cardiomyopathies demonstrate distinct thin filament regulatory properties in vitro.

PMID 24736382 2014 Altered interactions between cardiac myosin binding protein-C and α-cardiac actin variants associated with cardiomyopathies.

PMID 16267253 2005 Gene mutations in apical hypertrophic cardiomyopathy.

PMID 18506004 2008 Mutations in sarcomere protein genes in left ventricular noncompaction.

PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

rs727504379 in ACTC1;LOC101928174 gene and Left ventricular noncompaction PMID 25201647 2014 Familial left ventricular noncompaction associated with a novel mutation in the alpha-cardiac actin gene.

rs397517065 in ACTC1;LOC101928174 gene and Multiple congenital anomalies PMID 24461919 2014 Exome sequencing identifies a novel variant in ACTC1 associated with familial atrial septal defect.

PMID 22464770 2012 Genetic testing for dilated cardiomyopathy in clinical practice.

PMID 17947298 2008 Alpha-cardiac actin mutations produce atrial septal defects.

PMID 17611253 2007 Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects.

PMID 27139165 2016 A gain-of-function ACTC1 3'UTR mutation that introduces a miR-139-5p target site may be associated with a dominant familial atrial septal defect.