ACTC1 is the predominant striated α-actin isoform in the heart but is also expressed in developing skeletal muscle. To develop a translatable therapy, we investigated the genetic regulation of Actc1 expression. Using strains from The Collaborative Cross (CC) genetic resource, we found that Actc1 varies in expression by up to 24-fold in. A combined phenotype of ASD and late-onset heart failure was caused by a heterozygous, nonsynonymous ACTC1 mutation. Mechanistically, we found a shared molecular mechanism of defective actin signaling and polymerization in both cardiac development and contractile function. Detection of ACTC1 mutatio
Description. Confocal immunofluorescent analysis of ACTC1 antibody with HeLa cells followed by Alexa Fluor 488-conjugated goat anti-rabbit lgG (green). DAPI was used as a nuclear counterstain (blue). Actins are highly conserved proteins that are involved in cell motility, structure, and integrity. ACTB/ACTC are nonmuscle cytoskeletal actins and. No valid database connection Incorrect DATETIME value: '0000-00-00 00:00:00' SQL=SELECT file_id from jos_jdownloads_files WHERE published = 1 AND use_timeframe = 1 AND publish_to != '0000-00-00 00:00:00' AND publish_to = '2021-07-15 04:01:38' No valid database connection Incorrect DATETIME value: '0000-00-00 00:00:00' SQL=SELECT file_id from jos_jdownloads_files WHERE published = 0 AND use.
with ACTC1-negative GBMs and 1.08 years for patients with ACTC1-positive GBMs (p = 0.048). By the radiological find-ings, 42.9% of ACTC1-positive GBM patients demonstrated invasion toward the contralateral cerebral hemisphere at the time of diagnosis, although no invasion was observed in ACTC1-negative GBM patients (p = 0.013). The recurrence rat Summary of ACTC1 (ACTC, CMD1R) expression in human tissue. Selective cytoplasmic expression in heart, skeletal and smooth muscle View mouse Actc1 Chr2:113877763-113883356 with: phenotypes, sequences, polymorphisms, proteins, references, function, expressio ACTC1 is a gene responsible for proteins in muscle cells. This gene is a predominant isoform in human donor hearts, as well as early skeletal muscle development [ R5 ]. The ACTC gene is found in skeletal muscles is also the same gene that makes ACTC mRNA in the heart [ R5 ]. Mutations of this gene cause diseases like hypertrophic cardiomyopathy.
Defects in ACTC1 are the cause of cardiomyopathy dilated type 1R (CMD1R) [MIM:613424]. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia ACTC1 - Explore an overview of ACTC1, with a histogram displaying coding mutations, full tabulated details of all associated variants, tissue distribution and any drug resistance data Actc1 em1(IMPC)Mbp: HET Early adult 1.18×10-06: increased exploration in new environment Actc1 em1(IMPC)Mbp: HET Early adult 1.56×10-11: preweaning lethality, complete penetrance Actc1 em1(IMPC)Mbp: HOM Early adult 0.0 UniProtKB ID : P68032 , P04270. Gene ID: Human (70 ) Summary: Actins are highly conserved proteins that are involved in various types of cell motility. Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to four others
. Genome Resources. Alliance ; Gene:58114 ; Ensembl(GRCz11):ENSDARG00000099197 ; Note None Comparative Information. Expression . All Expression Data 31 figures from 15 publications Cross-Species Comparison. Alliance; Bgee; High Throughput Data. Expression Atlas. ACTC1: Organ-specific information for this biomarker is currently being annotated or is under review. Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access to this biomarker
ACTC1 encodes cardiac muscle alpha actin. This isoform differs from the alpha actin that is expressed in skeletal muscle, ACTA1.Alpha cardiac actin is the major protein of the thin filament in cardiac sarcomeres, which are responsible for muscle contraction and generation of force to support the pump function of the heart 1. Introduction. Cardiac α-actin (Actc1) is the most abundant striated α-actin isoform in the mature heart and the predominant striated α-actin in foetal skeletal muscle , .After birth, Actc1 protein expression in skeletal muscle is down-regulated to negligible levels, but may be expressed in diseased mature skeletal muscle (such as in muscular dystrophy) in regenerating myofibres ,
Showing 25 of 2,416 Results for ACTC1 Search Time: 0 ms. Showing of 2,416 Results for ACTC1 Search Time: 0 ms. Export Show: Symbol Description Category GIFtS GC id Score; 1: ACTC1: Actin Alpha Cardiac Muscle 1: Protein Coding: 43: GC15M034788: 46.95: 2: GJD2: Gap Junction Protein Delta 2: Protein Coding: 43. . Single cell type specificityi. The RNA specificity category is based on mRNA expression levels in the analyzed cell types based on scRNA-seq data from normal tissues. The categories include: cell type enriched, group enriched, cell. ACTC1-specific antibody Mouse Monoclonal from Proteintech validated in Western Blot (WB), Immunohistochemistry (IHC), Immunofluorescence (IF),Enzyme-linked Immunosorbent Assay (ELISA) applications. This antibody reacts with human, mouse, pig, rat samples. Cat.No. 66125-1-Ig 31-1138-00. Clone Name. RM257. Product Data Sheet. Anti-Alpha Cardiac Actin (ACTC1) Rabbit Monoclonal Antibody Data Sheet RM257. Specificity. RM257 reacts to human and mouse alpha cardiac actin (Actin, alpha cardiac muscle 1). This antibody may also react to bovine or rat alpha-cardiac actin, as predicted by immunogen homology. Immunogen Sequence variants and/or copy number variants (deletions/duplications) within the ACTC1 gene will be detected with >99% sensitivity. Variants classified as unknown significance (VUS), likely pathogenic, or pathogenic will be reported. Benign and like..
ACTC1 Whole Gene Sequencing. Next Generation Sequencing Deletion / Duplication NGS & Del Dup Comprehensive; Price: Price: Price: CPT: CPT: CPT: Related Tests. Specimen Requirements. Label specimens with the patient's full name, date of birth, collection date and source (if appropriate). Please use the tube size appropriate for the sample volume . To identify the gene defect that accounts for the familial ASD, we performed whole genome sequencing of individual II-3
ACTC1-001: ENST00000290378.4: 4106: 377aa: ENSP00000290378.4 . Gene/transcipt that contains an open reading frame (ORF). Protein coding. CCDS10041: B3KPP5 P68032: NM_005159 NP_005150: The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants). GENCODE basic ACTC1 (actin alpha cardiac muscle 1) Non-annotated gene. Preliminary data : if you are an author. ATP binding extracellular space cytoplasm cytosol dynactin complex actin filament actin filament focal adhesion actin filament organization positive regulation of gene expression membrane ATPase activity myosin binding myosin binding myosin binding.
PrimePCR™ SYBR® Green Assay: ACTC1, Human actin, alpha, cardiac muscle 1 Assay Type: SYBR® Green Assay Design: Intron-spanning Application: Gene Expression Unique Assay ID: qHsaCID0011424 Info: Same primer pair as used in probe assay qHsaCIP002800 Alpha Cardiac Actin antibody LS-C700459 is a Cy3-conjugated mouse monoclonal antibody to Alpha Cardiac Actin (ACTC1) from human. It is reactive with human and mouse. Validated for WB The presence of ACTC1 on qRT-PCR was the criterion for defining a sample as ACTC1 positive, and the absence of ACTC1 classified a sample as negative. The thermal cycling parameters were 50°C for 2 minutes and 95°C for 10 minutes, followed by 60 cycles of 95°C for 15 seconds and 60°C for 1 minutes
ACTC1 / Alpha-Cardiac Actin antibody diluted at 1:500 Anti-ACTC1 / Alpha Cardiac Actin antibody IHC staining of human heart. Immunohistochemistry of formalin-fixed, paraffin-embedded tissue after heat-induced antigen retrieval Mice lacking actc1 show embryonic or perinatal lethality and myofibrillar disarray. 7 In nonsyndromic, human DCM, ACTC1 was the first causative gene described for autosomal dominant heart failure, 8 but to date, only a few mutations (mainly in subdomain 3) have been published (Table I in the Data Supplement)
ACTC1 pathogenic mutations are rare. Perhaps 1% of HCM patients with known causative mutations have mutations in ACTC1 (Hershberger et al. Circ Heart Fail 2:253-261, 2009). Less than 1% of patients with ASD5 have mutations in ACTC1 (Matsson et al. Hum Molec Genet 17:256-265, 2008) Amber ACTC1 in Familial non syndromic congenital heart disease. Level 3: Congenital heart disease. Level 2: Cardiovascular disorders. Version 1.60. review. MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted. Sources. Illumina TruGenome Clinical Sequencing Services. Radboud University Medical Center, Nijmegen
This is a Validated Antibody Database (VAD) review about human ACTC1, based on 350 published articles (read how Labome selects the articles), using ACTC1 antibody in all methods.It is aimed to help Labome visitors find the most suited ACTC1 antibody. Please note the number of articles fluctuates since newly identified citations are added and citations for discontinued catalog numbers are. Recombinant ACTC1 Antibody [clone RM257] (R20278) Western blot testing of mouse heart lysate with recombinant ACTC1 antibody at 1:1000. Predicted molecular weight ~42 kDa. IHC testing of FFPE human heart tissue with recombinant ACTC1 antibody at 1:1000. This recombinant ACTC1 antibody is available for research use only
Variant summary: ACTC1 c.1099G>A (p.Ala367Thr) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251482 control chromosomes (gnomAD v2) 12 Then the apostles returned to Jerusalem from the hill called the Mount of Olives, a Sabbath day's walk # 1:12 That is, about 5/8 mile or about 1 kilometer from the city. 13 When they arrived, they went upstairs to the room where they were staying. Those present were Peter, John, James and Andrew; Philip and Thomas, Bartholomew and Matthew; James son of Alphaeus and Simon the Zealot, and. Gene test interpretation: Hypertrophic cardiomyopathy genes (MYBPC3, MYH7, TNNT2, TNNI3, MYL2, MYL3, ACTC1, TPM1) Formulary drug information for this topic No drug references linked in this topic The ACTA1 gene provides instructions for making a protein called skeletal alpha (α)-actin, which is part of the actin protein family. Actin proteins are important for cell movement and the tensing of muscle fibers (muscle contraction). These proteins also help maintain the cytoskeleton, which is the structural framework that determines cell shape and organizes cell contents Actc1 Location: Chr2:113877763-113883356 bp, - strand Genetic Position: Chr2, 57.55 cM Myofibrillar disarray in newborn Actc1 tm1Jll /Actc1 tm1Jll hearts Show the 2 phenotype image(s) involving this allele
ACTC1 (Actin Alpha Cardiac Muscle 1) is a Protein Coding gene. Diseases associated with ACTC1 include Atrial Septal Defect 5 and Cardiomyopathy, Familial Hypertrophic, 11. Among its related pathways are Cell adhesion_Cadherin-mediated cell adhesion and Development Slit-Robo signaling The ACTC1 gene encodes cardiac muscle alpha-actin, the predominant actin isoform in adult heart, which interacts with a variety of proteins to produce the force for muscle contraction. This antibody is specific to the ACTC1. It does not cross-react with other actin isoforms. The antibody is conjugated with CL594, Ex/Em 593 nm/614 nm For more info on ACTC1, check out the ACTC1 Infographic We have 30,000+ of these available, one for each gene! check them out. In this infographic you will see the following information for ACTC1: database IDs, super-family, protein function, synonyms, molecular weight, chromosomal locations, tissues of expression, subcellular locations, post translational modifications, and related diseases. ACTC1 (HGNC:143) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews ClinVar HGNC Name actin alpha cardiac muscle 1 Gene type protein-coding gene Locus type gene with protein product Previous symbols ACTC Alias symbols CMD1R %HI 9.59(Read more about the DECIPHER Haploinsufficiency Index) pLI 0.74(Read more about gnomAD pLI score) LOEU
ACTC 1 ACTC1 T h e ACTC1 g e n e i s o n e o f m a n y g e n e s t h a t h e l p s m u s c l e s t e n s e u p (c o n t ra c t ) The Actc1 transgenic strain was backcrossed at least five times onto a C57BL/6N genetic background and then were crossed with α-MHC-MerCreMer mice abbreviated TGCRE to generate the Actc1 transgenic mice (α-MHC-MerCreMer: CAG-Actc1) abbreviated TGCA. It is only in the presence of Cre which excises the CAT-PolyA sequence that α-cardiac actin. ACTC1 is the major protein of the cardiac sarcomere thin filaments, which are responsible for the muscle contraction function of the heart. Consistently, ACTC1 deficiency has been mainly linked to heart diseases (Debold et al., 2010; Wang et al., 2016) PrimePCR™ SYBR® Green Assay: Actc1, Mouse Actin, alpha, cardiac muscle 1 Assay Type: SYBR® Green Assay Design: exonic Application: Gene Expression Unique Assay ID: qMmuCED0052088 Info: Recommended - best efficiency; Same primer pair as used in probe assay qMmuCEP006051
ACTC1 (c.692C4G, p.T231R) was identiﬁed (Figure 2A), and it was considered to be possibly pathogenic on in silico analysis. His parents refused genetic testing of themselves because they were healthy and asymptomatic. The ACTC1 variant was considered to be a likely pathogenic mutation based on the following criteria: (1) i anti-ACTC1 Antibodies 38 Actin, Alpha, Cardiac Muscle 1 (ACTC1) Antibodies from 10 manufacturers are available on www.antibodies-online.com The John Welsh Cardiovascular Diagnostic Laboratory at Baylor College of Medicine is committed to providing the highest quality of service and cutting-edge medical and scientific technology to our patients and the cardiology/medical community. Working in close collaboration with cardiovascular.