Native Human Actin, Alpha, Cardiac Muscle 1
Cat.No. : | ACTC1-5294H |
Product Overview : | Native human ACTC1 wasexpressed in ACTC1 Human Heart. |
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Cat. No. : | ACTC1-5294H |
Description : | Theactin family is comprised of 3 main groups of actin isoforms, alpha, beta,and gamma. The ACTC1 are found in muscle tissues and are a major constituentof the contractile apparatus. The beta and gamma actins coexist in most celltypes as components of the cytoskeleton. Defects in this gene have beenassociated with idiopathic dilated cardiomyopathy (IDC) and familialhypertrophic cardiomyopathy (FHC). |
Form : | Lyophilized from asolution containing 20 mM Tris + 0.2 M NaCl + 1 mM ATP. |
Source : | Human Heart |
Biological Activity : | Sample testedpositive for Muscle Actin activity by Western blot. |
Concentration : | 1 mg/ml |
Endotoxin Level : | < 0.1 ng/µg ofprotein. |
Reconstitution : | Reconstitute withneutral buffer or deionized water. |
Storage : | Reconstitutedprotein is stable for 1 week at 2-4°C. For long term storage, aliquot and freezeat -20°C. Avoid repeated freeze-thaw cycles. |
Pathways : | Cardiacmuscle contraction; Dilated cardiomyopathy; Hypertrophic cardiomyopathy(HCM); Myometrial Relaxation and Contraction Pathways; Striated MuscleContraction |
Gene Name : | ACTC1 actin, alpha, cardiac muscle1 [ Homo sapiens ] |
Official Symbol : | ACTC1 |
Synonyms : | ACTC1; actin, alpha, cardiacmuscle 1; ACTC; ASD5; CMD1R; CMH11; LVNC4; actin, alpha cardiac muscle 1;OTTHUMP00000160081; alpha-cardiac actin; Alpha-cardiac actin |
Gene ID : | 70 |
mRNA Refseq : | NM_005159 |
Protein Refseq : | NP_005150 |
MIM : | 102540 |
UniProt ID : | P68032 |
Chromosome Location : | 15q11-q14 |
Function : | ATPbinding; ATPase activity; myosin binding; nucleotide binding |
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For Research Use Only. Not intended for any clinical use. No products from Creative BioMart may be resold, modified for resale or used to manufacture commercial products without prior written approval from Creative BioMart.
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Q&As (20)
Ask a questionACTC1 mutations, such as the G247D mutation, have been linked to atrial-septal defect followed by late-onset dilated cardiomyopathy (DCM).
Knockdown of ACTC1 inhibits U87MG cell migration.
Significant expression quantitative trait loci (eQTL) associated with Actc1 expression have been identified in both heart and soleus (a skeletal muscle)
ACTC1 mutations have been implicated in atrial septal defect, dilated cardiomyopathy, hypertrophic cardiomyopathy, and left ventricular noncompaction.
ACTC1 encodes a highly conserved actin protein that binds to myosin in both cardiac and skeletal muscle, suggesting shared functions between the two muscle types.
Mutations in the ACTA1 gene, which encodes skeletal muscle α-actin, can cause lethal muscle diseases. However, transgenic over-expression of cardiac α-actin (ACTC1) has been shown to rescue the disease phenotype in ACTA1 mouse models.
The discovery of mutations in ACTC1 expands our knowledge of genetic disorders and identifies a new condition associated with ACTC1 mutations, highlighting the importance of this gene in muscle-related conditions.
Mutations in ACTC1 have been linked to atrial septal defect, dilated cardiomyopathy, hypertrophic cardiomyopathy, and left ventricular noncompaction.
The G247D ACTC1 mutation negatively regulates serum response (SRF)-signaling, which contributes to the development of late-onset DCM.
Transgenic over-expression of ACTC1 rescues the disease phenotype observed in ACTA1 mouse models, which are affected by lethal muscle diseases.
Studies have examined methylation, histone modification, and chromatin accessibility as marks of regulatory potential, with methylation around the Actc1 transcriptional start site showing a strain-dependent correlation with Actc1 expression in skeletal muscle.
The shared functions of ACTC1 in both cardiac and skeletal muscle indicate overlapping roles and potential implications for muscle function and disease processes.
Actc1 expression can vary up to 24-fold in skeletal muscle among different strains, as observed in the strains from The Collaborative Cross (CC) genetic resource.
ACTC1 has been identified as a potential marker to detect GBM migration in clinical cases.
The highly conserved nature of the ACTC1 actin protein suggests its fundamental importance in muscle function across species.
The shared functions of ACTC1 in cardiac and skeletal muscle indicate potential overlapping mechanisms in muscle-related diseases and may guide future research and therapeutic approaches targeting ACTC1-related conditions.
ACTC1 is the predominant striated α-actin isoform in the heart.
Methylation around the Actc1 transcriptional start site in early adult skeletal muscle negatively correlates with Actc1 expression in a strain-dependent manner, indicating a potential regulatory role.
Reduced ACTC1 expression may contribute to the onset of congenital heart disease (CHD) through the induction of cardiomyocyte apoptosis.
Actc1 expression can vary up to 24-fold in skeletal muscle, as observed in strains from The Collaborative Cross (CC) genetic resource.
Customer Reviews (5)
Write a reviewThe protein product delivers exceptional results, surpassing our expectations in terms of its effectiveness.
The protein product demonstrates exceptional purity, free from any interfering impurities.
The protein product maintains remarkable consistency across multiple batches, ensuring reproducibility in our experiments.
The customer support provided by the company is exceptional, promptly addressing any inquiries or concerns.
The protein product was delivered in a timely manner, and the packaging was secure, ensuring product integrity.
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