Gene: ACTA2-AS1
Alternate names for this Gene:
Gene Summary:
Gene is located in Chromosome:
Location in Chromosome :
Description of this Gene:
Type of Gene:
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
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
rs121434528 in
ACTA2-AS1;STAMBPL1;ACTA2 gene and
Aortic Aneurysm, Familial Thoracic 6
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 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
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 24882528 2014 Canadian Cardiovascular Society position statement on the management of thoracic aortic disease.
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 19639654 2009 Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD).
PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
PMID 26153420 2015 Vascular disease-causing mutation R258C in ACTA2 disrupts actin dynamics and interaction with myosin.
PMID 25644172 2015 Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.