Gene: ACTA2

Alternate names for this Gene: ACTSA

Gene Summary: This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a smooth muscle actin that is involved in vascular contractility and blood pressure homeostasis. Mutations in this gene cause a variety of vascular diseases, such as thoracic aortic disease, coronary artery disease, stroke, and Moyamoya disease, as well as multisystemic smooth muscle dysfunction syndrome.

Gene is located in Chromosome: 10

Location in Chromosome : 10q23.31

Description of this Gene: actin alpha 2, smooth muscle

Type of Gene: protein-coding

Gene: STAMBPL1

Alternate names for this Gene: ALMalpha|AMSH-FP|AMSH-LP|bA399O19.2

Gene Summary:

Gene is located in Chromosome: 10

Location in Chromosome : 10q23.31

Description of this Gene: STAM binding protein like 1

Type of Gene: protein-coding

rs1057521105 in ACTA2;STAMBPL1 gene and Aortic Aneurysm, Familial Thoracic 6 PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 25173340 2014 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC).

PMID 19639654 2009 Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD).

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 17994018 2007 Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.

PMID 19409525 2009 Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease.

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

PMID 24882528 2014 Canadian Cardiovascular Society position statement on the management of thoracic aortic disease.

PMID 21248741 2011 Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections.

PMID 21288906 2011 Allele-specific effects of thoracic aortic aneurysm and dissection alpha-smooth muscle actin mutations on actin function.

PMID 25759435 2015 Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations.

PMID 21937134 2013 Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD.

PMID 24243736 2014 Acute aortic dissections with pregnancy in women with ACTA2 mutations.

PMID 27611364 2016 Genetic testing of 248 Chinese aortopathy patients using a panel assay.

PMID 21733706 2011 Isolated giant ascending aortic aneurysm in a child: a novel mutation of the ACTA2 gene.

PMID 25644172 2015 Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.

rs112602953 in ACTA2;STAMBPL1 gene and Familial thoracic aortic aneurysm and aortic dissection PMID 19409525 2009 Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease.

PMID 17994018 2007 Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.

PMID 23099432 2012 TGFβRIIb mutations trigger aortic aneurysm pathogenesis by altering transforming growth factor β2 signal transduction.

PMID 21248741 2011 Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections.

PMID 21733706 2011 Isolated giant ascending aortic aneurysm in a child: a novel mutation of the ACTA2 gene.