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ACTA1
| Symbol: | ACTA1 | | Name(s): | actin, alpha 1, skeletal muscle | | Type: | protein-coding | | Organism: | Homo sapiens | | Synonyms: | ACTA, ASMA, CFTD, CFTD1, CFTDM, MPFD, NEM1, NEM2, NEM3 | | Links: |
Pubmed,
Entrez Gene,
GeneCards,
BioGPS,
Map Viewer.
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Gene Information from Publications |
| Publication Link |
Summary of findings |
| 11702052 |
Observational study of gene-disease association. (HuGE Navigator) |
| 12210873 |
Observational study of gene-disease association. (HuGE Navigator) |
| 17387733 |
These data suggest that ACTA1 congenital fiber type disproportion (CFTD) mutations cause weakness by disrupting sarcomere function rather than structure. |
| 14684598 |
IGF-I-induced activation of the skeletal alpha-actin promoter is regulated by the L-type VGCC and calcineurin but independent of nuclear factor of activated T-cell transcriptional activity as C2C12 myoblasts differentiate into myotubes. |
| 15336687 |
two csae of nemaline myopathy showed novel mutations in the skeletal muscle aphaa-actin gene, one had g268d mutation and other had mutation, K373E. |
| 15520409 |
Missense mutations of ACTA1 cause an autosomal dominant congenital myopathy with cores. |
| 16427282 |
A heterozygous GTG-ATG mutation (Val163Met) was found in exon 4 of ACTA1 in affected individuals with nemaline myopathy with intranuclear rods. |
| 15236405 |
Results describe clinical and pathological features associated with 29 alpha-actin (ACTA1) mutations found in 38 individuals with nemaline myopathy from 28 families. |
| 15468086 |
Three heterozygous missense mutations of the skeletal muscle alpha actin gene (ACTA1) in three unrelated cases of congenital fiber type disproportion (CFTD) from Japan and Australia. |
| 15679046 |
Enhanced expression of alpha skeletal muscle actin is associated with liver metastases from gastrointestinal tumours | →View more information from publications. |
Interacting gene products |
| Interaction Type |
Gene 1 |
Gene 2 |
Interaction description |
Complex |
Publication Link |
| HPRD | Actin alpha, skeletal muscle 1 | gelsolin isoform a precursor | - | - | Pubmed |
| HPRD | Actin alpha, skeletal muscle 1 | troponin I, cardiac | - | - | Pubmed |
| HPRD | Actin alpha, skeletal muscle 1 | vitamin D-binding protein precursor | - | - | Pubmed |
| HPRD | Actin alpha, skeletal muscle 1 | transgelin | - | - | Pubmed |
| HPRD | Actin alpha, skeletal muscle 1 | dystrophin Dp427m isoform | - | - | Pubmed |
| HPRD | Actin alpha, skeletal muscle 1 | deoxyribonuclease I precursor | - | - | Pubmed |
| HPRD | Actin alpha, skeletal muscle 1 | cofilin 1 | - | - | Pubmed |
| HPRD | Actin alpha, skeletal muscle 1 | talin 1 | - | - | Pubmed |
| HPRD | Actin alpha, skeletal muscle 1 | chaperonin containing TCP1, subunit 5 | - | - | Pubmed |
| HPRD | Actin alpha, skeletal muscle 1 | vinculin isoform meta-VCL | - | - | Pubmed |
Recent Publications on ACTA1: |  |
Nemaline (actin) myopathy with myofibrillar dysgenesis and abnormal ossification.
We report a 2-year-old boy who presented with marked hypotonia and was... | 16th October, 2009
| Department of Child Neurology, National Center Hospital of Neurology and
| Neuromuscul Disord. 2009 Jul;19(7):485-8. Epub 2009 Jun 23.
DOI Direct Link |
Severe nemaline myopathy associated with consecutive mutations E74D and H75Y on a single ACTA1 allele.
Nemaline myopathy is among the most common congenital myopathies. We... | 16th October, 2009
| Friedrich-Baur-Institute and Department of Neurology,
| Neuromuscul Disord. 2009 Jul;19(7):481-4. Epub 2009 Jun 23.
DOI Direct Link |
Identification of valid reference genes during the differentiation of human myoblasts.
BACKGROUND: Analysis of RNA expression using real-time PCR (qRT-PCR)... | 14th October, 2009
| Department of Otolaryngology, Head and Neck Surgery, University Hospital
| BMC Mol Biol. 2009 Jul 2;10:66.
DOI Direct Link |
[Nemaline myopathy as a cause of neonatal hypotonia - with emphasis on personal experiences. Report of a family with two brothers affected]
Nemaline myopathy is a heterogenous form of congenital myopathy... | 7th October, 2009
| Klinika Neonatologii i Intensywnej Terapii Noworodka Instytutu Matki i
| Med Wieku Rozwoj. 2009 Jan-Mar;13(1):5-10.
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Actinopathies and myosinopathies.
The currently recognized two forms of "anabolic" protein aggregate... | 2nd October, 2009
| Department of Neuropathology, University Medicine, Johannes Gutenberg
| Brain Pathol. 2009 Jul;19(3):516-22.
DOI Direct Link |
→View more research publications. |
ACTA1 results (if any) from reagent suppliers | 
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GeneTex Inc. - Your source for monoclonal, polyclonal, primary ...
Product Description, Rabbit polyclonal antibody to ACTA1 (actin, alpha 1, ... Specificity, This antibody is specific to the Human ACTA1 protein. ...
http://www.genetex.com/WebPage/Product/ProductDetail.aspx?Ca...
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Antibodies to Actin Isoforms
human ... ACTA1(58) rat ... Acta1(29437), rat, chicken, human, mouse, IF (i), WB , pricing ... ACTA1(58), amoeba, wide range, slime mold, vertebrates ...
http://www.sigmaaldrich.com/etc/controller/controller-page.h...
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GeneTex Inc. - Your source for monoclonal, polyclonal, primary ...
Specificity, This antibody is specific to the Human ACTA1 protein. Species Cross Reactivity, Human - Not yet tested in other species ...
http://www.genetex.com/WebPage/Product/ProductDetail.aspx?Ca...
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ACTA1 siRNA (h) sc-108076
Click here for details. suitable control antibody: no control; sqRT-PCR Primer also available: ACTA1 (h)-PR: sc-108076-PR, 20 µl ...
http://www.scbt.com/ja/datasheet-108076-acta1-sirna-h.html...
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A2066 Anti-Actin antibody produced in rabbit affinity isolated ...
Gene Information, human ... ACTA1(58). rat ... Acta1(29437). mouse ... Acta1( 11459). shipped in, dry ice. storage temp. −20°C ...
http://www.sigmaaldrich.com/catalog/ProductDetail.do?N4=A206...
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Muscle Actin (HUC1-1) Antibody sc-53141
Western blot analysis of ACTA1 expression in non-transfected 293T: sc-117752 (A) , mouse ACTA1 transfected 293T: sc-118228 (B) and C32 (C) whole cell lysates ...
http://www.scbt.com/datasheet-53141-muscle-actin-huc1-1-anti...
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A3853 Monoclonal Anti-Actin antibody produced in mouse clone AC-40 ...
Acta1(29437), Acta2(81633), Actb(81822), Actc1(29275), Actg1(287876), Actg2( 25365). mouse ... Acta1(11459), Acta2(11475), Actb(11461), Actc1(11464), ...
http://www.sigmaaldrich.com/catalog/ProductDetail.do?D7=0&N5...
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Recent Search Terms used to find this page: Acta1 Actin alpha skeletal muscle | ACTA1 congenital fibre type disproportion | alpha skeletal muscle actin liver | missense mutation in exon of ACTA1 gene | alpha I actin precursor | alpha 1 muscle actin | alpha 1 muscle actin | alpha 1 gene in muscle | ACTA1 and ACTC1 and heart | .
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