Given the importance of ACTC1 in the structural and functional integrity of cardiomyocytes, extending knowledge on ACTC1 mutant dysfunction is of general interest and potential clinical importance. Creative Biolabs is a global specialized Contract Research Organization (CRO) providing high-quality biomarker analytical services to support the research development of protein biomarkers. We hope to help you accelerate your ACTC1 diagnosis research and partner with you to explore new frontiers in biological science.
Background
The ACTC1 gene encodes cardiac α-actin that together with regulatory proteins tropomyosin and 3 troponins (C, I, and T) forms the thin contractile filament, in turn connecting the myocellular Z-disc with the thick filament protein myosin. ACTC1. Studies have demonstrated that ACTC1 plays an important role in human colon cancer, glioblastoma (GBM), oral squamous cell carcinoma, and so forth. The co-expression of G protein-coupled receptor kinase 5 (GRK5) and ACTC1 is indeed independent prognostic biomarkers, indicating their important role in Epithelial ovarian cancer (EOC).
Fig.1 Genomic model of ACTC1.1
Scientist identified a novel, heterozygous, and non-synonymous ACTC1 mutation (p.Gly247Asp or G247D) in a large, multi-generational family, causing atrial-septal defect followed by late-onset dilated cardiomyopathy (DCM). A mutation at G301A causes hypertrophic cardiomyopathy and even sudden cardiac death.
We Have Your Biomarker Assay Needs Covered
Biomarker analysis methods include a broad range of experimental techniques for the detection, and identification of proteins, as well as the characterization of their structure and function. Analysis methods at Creative Biolabs may also be more broad-based, involving analysis of the entire protein complement of a cell, tissue, or organism under a specific, defined set of conditions.
Different methods are currently used to characterize protein structure, determine protein function, identify, and verify protein interactions and quantitate protein expression levels. Creative biolabs’ unique portfolio of laboratory ACTC1 analysis includes but is not limited to the following aspects.
| Cat | Service |
| BAS73-1 | ACTC1 Expression Analysis |
| BAS73-2 | Structural Modeling of Mutant ACTC1 |
| BAS73-3 | Creation of Stable ACTC1-Overexpression Lines |
| BAS73-4 | Transient shRNA ACTC1 Knockdown |
Creative Biolabs also provides highly sensitive, custom-defined multiplexing options for the measurement of a range of analytes. Services are offered as an integrated service end-point or as a stand-alone option. Please don't hesitate to contact us today to develop custom solution for specific needs. We will work to accommodate your request.
Reference
- Chong, Jessica X., et al. "Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects." Human Genetics and Genomics Advances (2023). Distributed under Open Access license CC BY 4.0, without modification.
For Research Use Only.
