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The ACTA1 gene provides instructions for making a protein called skeletal alpha (α)-actin, which is part of the actin protein family.
The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell ...
ACTA1 (Actin Alpha 1, Skeletal Muscle) is a Protein Coding gene. Diseases associated with ACTA1 include Myopathy, Scapulohumeroperoneal and ...
Actin, alpha skeletal muscle is a protein that in humans is encoded by the ACTA1 gene. ... Actin alpha 1 which is expressed in skeletal muscle is one of six ...
Disease descriptionA genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal ...
The ACTA1 gene encodes skeletal muscle alpha-actin, the principal actin isoform in adult skeletal muscle, which forms the core of the thin filament of the ...
Gene name, ACTA1 (HGNC Symbol). Synonyms, ACTA, NEM3. Description, Actin alpha 1, skeletal muscle (HGNC Symbol). Chromosome, 1. Cytoband, q42.13.
ACTA1 is a striated muscle–specific actin with >10-fold greater expression in skeletal muscle than in heart (Figure [D]). ... There are >250 known ...
ACTA1 is a very conserved gene encoding a protein with high identical amino acid sequence from rice to human [13]. Although ACTA1 transcript had ...
ACTA1 Antibody. Applications: WB, IHC (P), IHC (F), Flow, ELISA. Reactivity: Human, Rat, Porcine, Mouse, Rabbit. Images: 16.
ACTA1 mutations are known to cause three congenital myopathies: nemaline myopathy, actin myopathy (MIM 102610), and intranuclear rod myopathy.
ACTA1 -Specific antibody for IHC, WB, ELISA and reacts with human, mouse, rat. ... ACTA1 skeletal Muscle Actin Specific, ACTA1-Specific, Actin, ...
Abstract. More than 200 mutations in the skeletal muscle α-actin gene (ACTA1) cause either dominant or recessive skeletal muscle disease.
Actin Alpha 1, Skeletal Muscle (ACTa1) Protein is a Recombinant Human, Mouse, Rat protein expressed in E. coli.
Alias, Actin, alpha skeletal muscle (Alpha-actin-1) [Cleaved into: Actin, alpha skeletal muscle, intermediate form], ACTA1, ACTA ...
Mutations in the skeletal muscle alpha-actin gene (ACTA1) associated with congenital myopathy with excess of thin myofilaments, nemaline myopathy and ...
ACTA1 Antibody has been developed for the detection of ACTA1 protein via Western Blot or IHC.
ACTA1 /ACTC1/ACTG1/ACTG2 (Human) Cell-Based ELISA Kit is an indirect enzyme-linked immunoassay for qualitative determination of ACTA1/ACTC1/ACTG1/ACTG2 ...
The ACTA1 gene is highly conserved throughout evolution and polymorphisms that alter the protein sequence are extremely rare in the general ...
Exome sequencing on blood DNA from both patients identified de novo ACTA1 missense mutations in a small number of reads, suggesting mutation ...
View mouse Acta1 Chr8:124618508-124621490 with: phenotypes, sequences, polymorphisms, proteins, references, function, expression.
PathPlus™ ACTA1 / Skeletal Muscle Actin Antibody LS-B4203 is a pathologist validated IHC antibody Rabbit anti-Human ACTA1 / Skeletal Muscle Actin.
Many mutations in the skeletal muscle α-actin gene (ACTA1) lead to muscle weakness and nemaline myopathy. Despite increasing clinical and ...
This report describes general characteristics of myopathies associated with the human ACTA1 gene, which encodes the alpha actin found in human skeletal ...
Mouse monoclonal antibody Anti-Actin, alpha skeletal muscle (Internal) is suitable for use in Western Blot, Immunohistochemistry, Immunofluorescence and ...
ACTA antibody; ACTA1 antibody; ACTC antibody; ACTC1 antibody; Actin alpha cardiac muscle antibody; ACTS antibody; Alpha actin 1 ...
HGNC (Hugo), ACTA1. HGNC Alias symb, NEM3. HGNC Alias name, nemaline myopathy type 3. HGNC Previous name, ACTA. LocusID (NCBI), 58. Atlas_Id, 43599.
Mutations in the skeletal muscle α-actin gene (ACTA1) cause a range of congenital myopathies characterised by muscle weakness and specific skeletal muscle ...
Include: Coding regions (CDS); Untranslated regions (UTRs); Non-coding transcripts.
Human ortholog(s) of this gene implicated in congenital fiber-type disproportion and nemaline myopathy 3. Orthologous to human ACTA1 (actin alpha 1, skeletal ...
A highly conserved protein, ACTA1 is implicated in multiple muscle diseases, including nemaline myopathy, actin aggregate myopathy, fiber-type ...
Actin (ACTA1) mouse monoclonal antibody, clone 3B3, Purified.
Ready-to-use AAV expressing Human ACTA1 (actin, alpha 1, skeletal muscle). Available with optional GFP reporter or cell-specific promoter.
Description: Homo sapiens actin alpha 1, skeletal muscle (ACTA1), mRNA. (from RefSeq NM_001100) RefSeq Summary (NM_001100): The product ...
anti-ACTA1 Monoclonal Antibody reacting with Mouse and identified with ELISA,WB,IP. Quality is guaranteed.
Offical Gene Symbol ACTA1; Species Human (Homo sapiens); Offical Full Name actin alpha 1, skeletal muscle; Other Aliases ACTA; ASMA; CFTD; CFTD1; CFTDM; ...
ACTA1 - actin alpha 1, skeletal muscle · Synonym(s) : NEM3, nemaline myopathy type 3 · Previous symbols and names : ACTA · Type : gene with protein product ...
Mutations in ACTA1, encoding for skeletal muscle α-actin, cause a spectrum of myopathies with a range of characteristic findings such as nemaline rods or ...
Identification of Chimeric RNAs in Pig Skeletal Muscle and Transcriptomic Analysis of Chimeric RNA TNNI2- ACTA1 V1 · Osteopontin Expression in Cardiomyocytes Is ...
ACTA1 single gene test. Analysis methods. PLUS. Availability. 3-4 weeks. Test code. S00035. CPT code *. 81479. Phenotype. Myopathy. Alternative gene name.
Mutations in the skeletal muscle alpha-actin gene ( ACTA1) are associated by and large with three muscle diseases (1) congenital actin myopathy, ...
The ACTA1 CRISPR guide RNA sequences were designed by GenScript's proprietary algorithm to target a single locus in the endogenous genome.
ACTA1 siRNA (m), shRNA and Lentiviral Particle Gene Silencers designed to knockdown mouse ACTA1 gene expression.
The ACTA1 gene encodes skeletal muscle alpha-actin, which is the predominant actin isoform in the sarcomeric thin filaments of adult skeletal muscle, ...
ACTA1 / ASMA (3B3) antibody. Actin, alpha skeletal muscle. Alpha-actin-1. Gene name: ACTA1, ACTA, ASMA, CFTD, CFTD1, CFTDM, MPFD, NEM1, NEM2, NEM3.
Arthrogryposis. Gene: ACTA1. Green List (high evidence). ACTA1 (actin, alpha 1, skeletal muscle) EnsemblGeneIds (GRCh38): ENSG00000143632 EnsemblGeneIds (GRCh37): ...
ACTA1 /alpha-actin Antibody can be used for western blot, immunohistochemistry, and other antibody applications.
Gene: ACTA1, Human. PrimePCR Primer Assays for Real-Time PCR oligo primer pair gene expression assay target. Gene Symbol: ACTA1; Aliases: ACTA, ASMA, CFTD, ...
ACTA1 Antibody, Mouse Monoclonal Antibody (Mab) validated in FC, IHC-P, WB, E (AM1965B), Abcepta.
ACTA1, ENSG00000143632.14, 58, chr1:229431245-229434098:- actin, alpha 1, skeletal muscle [Source:HGNC Symbol;Acc:HGNC:129], IGV Browser, Ensembl , UCSC ...
ACTA1 · GENE SUMMARY · PATHWAYS · RELATED DISORDERS · RELATED CONDITIONS · ACTA1 (actin alpha 1, skeletal muscle) Gene Expression · Interacting ...
Recombinant Actin, alpha 1, Skeletal Muscle (ACTA1) Protein (His tag). Species: Human. Source: Insect Cells. Order product ABIN3088232.
Receive email alerts when new plasmids with this gene become available. Log in to subscribe to Addgene Alerts. Description actin alpha 1, skeletal muscle. Also ...
ACTA1 is the skeletal muscle alpha actin gene whose transcript was ... However, ACTA1 expression and regulation in ARMS have not been well ...
2 reviews. Compare Anti-ACTA1 Antibody Products from leading suppliers on Biocompare. View specifications, prices, citations, reviews, and more.
Boster Bio Anti-Actin/ACTA1 Antibody Picoband™ catalog # PB9751. Tested in IHC, WB applications. This antibody reacts with Human, Mouse, Rat.
ACTA1 ; Official Full Name, actin, alpha 1, skeletal muscle ; Background, The product encoded by this gene belongs to the actin family of proteins, which are ...
of these, mutations in skeletal muscle α-actin (ACTA1) account for ∼25% of all reported cases. To investigate the myopathic phenotypes from the level of whole ...
Genetic Testing - Nemaline myopathy (nemaline myopathy) - Genes ACTA1, NEB, TNNT1, TPM2, TPM3, CFL2, KBTBD13, KLHL40, KLHL41 and LMOD3.
Gene, Disease, MOI, Expert Panel, Classification, Report & Date. ACTA1, alpha-actinopathy. MONDO:0100084. SD, Congenital Myopathies GCEP. show more.
GOV Journal Article: Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1 -related nemaline myopathy (NEM3): ACTA1 ...
The ACTA1 gene homepage. This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
The ACTA1 gene is associated with a spectrum of autosomal dominant and recessive congenital myopathies including nemaline myopathy 3 (NEM3) (MedGen UID: ...
Mutations of ACTA1 cause mostly fatal congenital myopathies. Cardiac α-actin (ACTC) is the major striated actin in adult heart and fetal ...
Species: Homo sapiens; Symbol: ACTA1; Name: actin alpha 1, skeletal muscle; Synonyms. ACTA; actin alpha 1. Show All 17. Biotype: protein coding gene ...
ACTA1 Mutations: Congenital Fiber Type Size Disproportion. Fiber size: Varied, Bimodal distribution. Nuclei: Irregular shapes. H&E stain ...
G48A-ACTA1 mutation. •. Histologically diagnosed as CFTD. •. Accompanied by dilated cardiomyopathy.
The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, ...
The most common mode is indicated in bold where more than one mode of inheritance is implicated. aAutosomal-dominant ACTA1 mutations implicated ...
Nemaline myopathy(NM) ACTA1, NEB, TPM2, TPM3, TNNT1, CFL2, KBTBD13, KLHL40 2. Core myopathies (central core disease and multiminicore disease) RYR1, SEPN1, ...
GENETICS There are currently six known genetic causes of nemaline myopathy, of which the nebulin (NEB) and actin (ACTA1) genes are the most important.
In contrast to SEPN1-, RYR1-, and MTM1-patients, which have predominant proximal weakness, ACTA1-patients present with anterior rather than posterior lower ...
37.5% NEB MTM1 SEPN1 RYR1 AD RYR1 AR Overall CM ACTA1 B 100 ) Long-distances wheelchair Wheelchair-dependent 9080% ( s tneitapf o n oitroporP 7060 0 10 40 ...
In patients with 2 null mutations in the ACTA1 gene show that all muscle fibres express the cardiac actin isoform (see below).
Acta1. Mus musculus actin, alpha 1, skeletal muscle (Acta1). Properties. Gene, Acta1. EntrezID, 11459. RefSeqIDs, NM_009606 NM_001272041. GeneCardID.
... des, igf-1, tgfb2) and those encoding proteins comprising the contractile apparatus (acta1, actc1, myh3, myh11, myl1, myl2, myl4, tpm1, tnnt2, tnnc1).
Table 3 Distinguishing features of congenital myopathies on muscle biopsy Feature Genetic subtype ACTA1, CFL2, KBTBD13, KLHL40, KLHL4, NEB, RYR1, TNNT1, ...
AARS2 ABCC6 ABCC9 ACAD8 ACAD9 ACADVL ACTA1 ACTC1 ACTN2 ADCY5 AGK AGL AHCY ALG1 ALG12 ALMS1 ALPK3 ANK2 ANKS6 ARSB ATAD3A ATP5F1E ATPAF2 BAG3 BCS1L BMP2 BOLA3 ...
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