Recombinant Human ACTA2 protein, His-tagged
Cat.No. : | ACTA2-7153H |
Product Overview : | Recombinant Human ACTA2 protein(NP_001135417.1)(1-377 aa) was fused to His Tag and expressed in E.coli. |
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Description : | 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. |
Source : | E.coli |
Species : | Human |
Tag : | His |
Form : | The purified protein was Lyophilized from sterile PBS (58mM Na2HPO4,17mM NaH2PO4, 68mM NaCl, pH7.). 5 % trehalose and 5 % mannitol are added as protectants before lyophilization. |
Protein length : | 1-377 aa |
AA Sequence : | MCEEEDSTALVCDNGSGLCKAGFAG DDAPRAVFPSIVGRPRHQGVMVGMG QKDSYVGDEAQSKRGILTLKYPIEH GIITNWDDMEKIWHHSFYNELRVAP EEHPTLLTEAPLNPKANREKMTQIM FETFNVPAMYVAIQAVLSLYASGRT TGIVLDSGDGVTHNVPIYEGYALPH AIMRLDLAGRDLTDYLMKILTERGY SFVTTAEREIVRDIKEKLCYVALDF ENEMATAASSSSLEKSYELPDGQVI TIGNERFRCPETLFQPSFIGMESAG IHETTYNSIMKCDIDIRKDLYANNV LSGGTTMYPGIADRMQKEITALAPS TMKIKIIAPPERKYSVWIGGSILAS LSTFQQMWISKQEYDEAGPSIVHRK CF |
Purity : | 85%, by SDS-PAGE with Coomassie Brilliant Blue staining. |
Stability : | Store for up to 12 months at -20°C to -80°C as lyophilized powder. |
Storage : | Short-term storage: Store at 2-8°C for (1-2 weeks). Long-term storage: Aliquot and store at -20°C to -80°C for up to 3 months, buffer containing 50% glycerol is recommended for reconstitution. Avoid repeat freeze-thaw cycles. |
Reconstitution : | Reconstitute at 0.25 µg/μl in 200 μl sterile water for short-term storage. Reconstitution with 200 μl 50% glycerol solution is recommended for longer term storage (see Stability and Storage for more details). If a different concentration is needed for your purposes please adjust the reconstitution volume as required (please note: the ion concentration of the final solution will vary according to the volume used). Note: Centrifuge vial before opening. When reconstituting, gently pipet and wash down the sides of the vial to ensure full recovery of the protein into solution. |
Gene Name : | ACTA2 actin alpha 2, smooth muscle [ Homo sapiens (human) ] |
Official Symbol : | ACTA2 |
Synonyms : | ACTSA |
Gene ID : | 59 |
mRNA Refseq : | NM_001141945.2 |
Protein Refseq : | NP_001135417.1 |
MIM : | 102620 |
UniProt ID : | P62736 |
Products Types
◆ Recombinant Protein | ||
ACTA2-2778H | Recombinant Human ACTA2 Protein, His-tagged, OVA Conjugated | +Inquiry |
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ACTA2-266H | Recombinant Human ACTA2 Protein, His (Fc)-Avi-tagged | +Inquiry |
Acta2-527M | Recombinant Mouse Acta2 Protein, MYC/DDK-tagged | +Inquiry |
ACTA2-6139H | Recombinant Human ACTA2 Protein (Met1-Phe377), N-His tagged | +Inquiry |
◆ Lysates | ||
ACTA2-9066HCL | Recombinant Human ACTA2 293 Cell Lysate | +Inquiry |
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Not For Human Consumption!
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Customer Reviews (5)
Write a reviewIt specificity has been instrumental in obtaining accurate and reliable data.
The clear instructions and detailed information provided made it straightforward to use
The rigorous testing and quality control measures ensure its integrity and reliability, making it a trusted option
Its stability and shelf life surpassed me.
It demonstrated minimal off-target effects.
Q&As (21)
Ask a questionCongenital mydriasis was associated with the R179 mutation in the cases that tested positive for ACTA2 mutation.
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.
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.
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.
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.
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.
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.
The cell assays showed that ACTA2 overexpression led to decreased cell proliferation, migration, invasion, and angiogenic ability in the HMEC-1 model.
ACTA2 knockdown in the zebrafish model resulted in defective vascular development, disruption of vascular integrity, and malformation of micro vein development.
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.
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.
No, in this series, ACTA2 mutations or copy number variations were not detected in children presenting with iris flocculi.
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.
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.
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.
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.
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.
ACTA2 is a gene that encodes for smooth muscle α-actin, a protein involved in the contraction and maintenance of smooth muscle cells.
ACTA2 is found in various smooth muscle tissues throughout the body, including blood vessels, airways, the gastrointestinal tract, and other organs.
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.
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
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