Mutations of the smooth muscle a-actin ACTA2 are associated with structural disruption and functional impairment of contractile proteins and predispose to a variety of diffuse vascular diseases. With our innovative antibodies covering a diverse range of research areas, Creative Biolabs’ portfolio of personalized biomarker analysis services has earned us a good reputation in the worldwide market. Nowadays, we provide custom ACTA2 analysis services for worldwide customers.
The ACTA2 gene encodes for smooth muscle specific α-actin (α-SMA), a critical component of the contractile apparatus of the vascular smooth muscle cell. ACTA2 expression is largely restricted to smooth muscle cells, pericytes, and specialized fibroblasts. Diseases associated with ACTA2 include multisystemic smooth muscle dysfunction syndrome, aortic aneurysms, and familial thoracic aortic aneurysms and dissections. Among its related pathways is actin nucleation by ARP-WASP complex and integrin pathway.
Fig.1 Structure of ACTA2.1
More than 40 mutations in ACTA2 have been identified to date. Studies on ACTA2 mutations have demonstrated that mutation carriers show various vasculopathies, including premature onset of premature ischemic strokes, coronary artery disease (CAD), and familial thoracic aortic aneurysms and dissections (TAADs). Missense mutations in ACTA2, such as Arg179His (R197H), cause notable biochemical defects in vitro, such as impairment of actin-myosin interaction, which results in smooth muscle contractile dysfunction.
Research on ACTA2 mutations is imperative for understanding the pathogenesis and determining the pertinent management strategies of vasculopathies. Further in-depth studies of causative genes of ACTA2 mutations may largely facilitate the diagnosis and treatment of the underlying disorders.
Creative Biolabs has been supplying the research community for over 20 years with in vivo grade antibodies for biomedical research. It is our commitment to providing the highest quality ACTA2 analysis services based on our innovative developed antibodies. Creative Biolabs understands the strict quality criteria required for such studies and the financial limitations faced by many researchers.
| Cat | Service |
| BAS71-1 | ACTA2 Mutation Analysis |
| BAS71-2 | ACTA2 Exons Sequencing |
| BAS71-3 | ACTA2 Expression Analysis |
| BAS71-4 | ACTA2 Knockdown Assay |
Our wide variety of technology platforms allows Creative Biolabs to choose the right technology for your biomarker. No matter how complex the assay, our team has the scientific and regulatory expertise to measure your biomarker and to ensure delivery of quality results on time. Please don't hesitate to contact us today to develop custom solutions for specific needs. We will work to accommodate your request.
Reference
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