Recombinant Human ACTA2 Protein, His (Fc)-Avi-tagged

• Cat.No.: ACTA2-266H
• Product Overview: Recombinant Human ACTA2 with His (Fc)-Avi tag was expressed and purified

Specification

• Source: HEK293
• Species: Human
• Tag: His&Fc&Avi
• Endotoxin: < 1.0 EU per μg of the protein as determined by the LAL method
• Purity: ≥85% by SDS-PAGE
• Stability: Stable for at least 6 months from the date of receipt of the product under proper storage and handling conditions. Avoid repeated freeze-thaw cycles.
• Storage: For long term storage, aliquot and store at -20 to -80 centigrade. Avoid repeated freezing and thawing cycles.
• Storage Buffer: PBS buffer

Gene Information

• Gene Name: ACTA2 actin alpha 2, smooth muscle [ Homo sapiens (human) ]
• Official Symbol: ACTA2
• Synonyms: ACTSA
• Gene ID: 59
• mRNA Refseq: NM_001141945.3
• Protein Refseq: NP_001135417.1
• MIM: 102620
• UniProt ID: P62736

Reviews

05/21/2022

It specificity has been instrumental in obtaining accurate and reliable data.

01/12/2022

The clear instructions and detailed information provided made it straightforward to use

01/25/2021

The rigorous testing and quality control measures ensure its integrity and reliability, making it a trusted option

03/17/2018

Its stability and shelf life surpassed me.

10/08/2016

It demonstrated minimal off-target effects.

Q&As

What was the association between congenital mydriasis and ACTA2 mutations?

Congenital mydriasis was associated with the R179 mutation in the cases that tested positive for ACTA2 mutation.

Is there any inheritance pattern associated with ACTA2-related diseases?

ACTA2-related diseases can be inherited in an autosomal dominant manner, meaning that a single copy of the pathogenic variant is sufficient to cause the condition. However, de novo (sporadic) variants can also occur, meaning they arise in an affected individual without being inherited from their parents.

Are there ongoing research efforts to better understand ACTA2-related diseases?

Yes, research is actively being conducted to further understand the molecular mechanisms underlying ACTA2-related diseases and to explore potential therapeutic strategies. This includes investigating the specific effects of different pathogenic variants and developing animal models to study the disease progression and test potential treatments.

What is the specific disease associated with ACTA2 variants altering arginine 179?

ACTA2 variants altering arginine 179 are associated with a more severe, multisystemic disease called smooth muscle dysfunction syndrome (SMDS). This syndrome involves dysfunction of smooth muscle-dependent systems in various parts of the body.

How do pathogenic variants in ACTA2 contribute to disease?

Pathogenic variants in ACTA2 can disrupt the normal structure or function of smooth muscle α-actin. This can lead to smooth muscle dysfunction, affecting various systems in the body, particularly the vascular system. The altered actin protein may impair smooth muscle contraction, leading to abnormalities such as thoracic aortic aneurysms and dissections.

Are there any treatment options available for ACTA2-related conditions?

Currently, there is no cure for ACTA2-related conditions. Treatment focuses on managing symptoms and preventing complications. This may involve surgical interventions to repair or replace affected blood vessels, medication to control blood pressure, and regular monitoring of cardiovascular health.

What is the lifetime risk of an aortic event in individuals with ACTA2 mutations?

The lifetime risk for an aortic event in individuals with ACTA2 mutations is reported to be 76%. This indicates that a significant proportion of individuals with these mutations will experience an aortic event at some point in their lifetime.

What were the results of the cell assays conducted on the HMEC-1 model in relation to ACTA2 overexpression?

The cell assays showed that ACTA2 overexpression led to decreased cell proliferation, migration, invasion, and angiogenic ability in the HMEC-1 model.

What was the impact of ACTA2 knockdown in the zebrafish model?

 ACTA2 knockdown in the zebrafish model resulted in defective vascular development, disruption of vascular integrity, and malformation of micro vein development.

How was the expression of ACTA2 validated in the pathological tissues of patients?

The expression of ACTA2 in the pathological tissues of patients with venous malformations and control tissues was detected using both quantitative polymerase chain reaction (qPCR) and western blot techniques.

What is the association between ACTA2 mutations and the risk of acute aortic dissection?

ACTA2 mutations are associated with a high risk of presentation with an acute aortic dissection. These mutations increase the likelihood of developing this serious condition.

Were ACTA2 mutations or copy number variations detected in children with iris flocculi?

No, in this series, ACTA2 mutations or copy number variations were not detected in children presenting with iris flocculi.

What happens when there are mutations or alterations in the ACTA2 gene?

Mutations or alterations in the ACTA2 gene can disrupt the normal structure or function of smooth muscle α-actin. This can lead to smooth muscle dysfunction and contribute to the development of various diseases, particularly those affecting the vascular system.

What is the role of ACTA2 variants in the development of thoracic aortic aneurysms and dissections?

Pathogenic variants in ACTA2, which encodes smooth muscle α-actin, predispose individuals to thoracic aortic aneurysms and dissections. These variants contribute to the development of these cardiovascular conditions.

Besides thoracic aortic aneurysms and dissections, what other conditions are associated with pathogenic ACTA2 variants?

 In addition to thoracic aortic disease, pathogenic ACTA2 variants are also associated with various vascular complications, including arterial aneurysms in other parts of the body, arterial tortuosity, and early-onset ischemic strokes. Other non-vascular manifestations can include ocular abnormalities, such as iris flocculi and congenital mydriasis, as well as genitourinary and gastrointestinal issues.

Can you describe the clinical presentations of the patients with the novel heterozygous ACTA2 missense variants?

The clinical presentations of the patients with the novel heterozygous ACTA2 missense variants include a range of complications that align or overlap with SMDS. These complications can affect various body systems and may differ among individuals with different variants.

What is the normal function of ACTA2?

ACTA2 encodes smooth muscle α-actin, which is involved in the contraction and maintenance of smooth muscle cells. It plays a crucial role in the function of various organs and tissues, including blood vessels, airways, and the gastrointestinal tract.

What is ACTA2?

ACTA2 is a gene that encodes for smooth muscle α-actin, a protein involved in the contraction and maintenance of smooth muscle cells.

Where is ACTA2 found in the body?

ACTA2 is found in various smooth muscle tissues throughout the body, including blood vessels, airways, the gastrointestinal tract, and other organs.

What signaling pathways were affected by ACTA2 knockdown in the zebrafish model?

The knockdown of ACTA2 inhibited the Dll4/notch1 signaling pathway, Ephrin-B2 signaling pathway, and affected vascular integrity-related molecules. It also activated the Hedgehog signaling pathway.

Are there any unusual vascular complications observed in the patients with the other ACTA2 missense variants?

Yes, there are unusual vascular complications observed in some patients with other ACTA2 missense variants. For example, the patient with the ACTA2 p.Ile66Asn variant has a large fusiform internal carotid artery aneurysm, which is an atypical vascular complication. Similarly, the patient with the ACTA2 p.Arg39Cys variant has complications in the pulmonary, gastrointestinal, and genitourinary systems, but no vascular manifestations