Recombinant Human Actin, alpha cardiac muscle 1 (ACTC1)

1. These findings suggest that the familial ostium secundum atrial septal defect (ASDII)may be a result of an ACTC1 3'UTR gain-of-function mutation caused by the introduction of a new miR-139-5p target site. Our results provide the first evidence of a pathogenic mutation in the ACTC1 3'UTR that may be associated with familial isolated ASDII. PMID: 27139165
2. In conclusion, given that ACTC1 upregulation is associated with improved muscle function in certain myopathies, we hypothesize that upregulation of ACTC1 may represent a compensatory response to androgen deprivation therapy-induced muscle loss PMID: 28756295
3. highly penetrant, novel, heterozygous ACTC1I289T mutation is associated with a family with left ventricular noncompaction. PMID: 25201647
4. We reported a case of mirror-type dextrocardia who developed HCM in adulthood exhibiting multiple genetic mutation related to sarcomere proteins PMID: 25863306
5. A heterozygous missense mutation was found (c.251T>C, p.(Met84Thr)) in the ACTC1 gene PMID: 26061005
6. The first step of hypertrophic cardiomyopathy pathogenesis with E99K is increased calcium sensitivity and decreased calcium cooperativity, which result in larger tension during partial activation to cause a diastolic problem. PMID: 25451174
7. In this study, there was no association of the analyzed SNPs located in RASGRF1. GJD2, and ACTC1 with pathological myopia. PMID: 23834555
8. In adult Hypertrophic Cardiomyopathy patients, thin-filament gene ACTC1 mutations are associated with increased likelihood of advanced Left Ventricular dysfunction and heart failure compared with thick-filament disease. PMID: 25524337
9. Genetic variations at the ACTC1 gene may contribute to progression to chronic Chagas Cardiomyopathy PMID: 24367596
10. Change in the ability of cMyBP-C to bind cardiac actin modified filaments might contribute to the development of disease. PMID: 24736382
11. Our results provide further evidence supporting a causative role for ACTC1 mutations in ASD. Massively parallel sequencing of the exome allows for the detection of novel rare variants causing CHD without the limitations of a candidate gene approach. PMID: 24461919
12. The authors demonstrate that clathrin promotes clustering of the vaccinia virus actin tail nucleator A36 and host N-WASP, which activates actin nucleation through the Arp2/3 complex. PMID: 22980331
13. ACTC1 mutations Y166C and M305L are associated with hypertrophic cardiomyopathy PMID: 22643837
14. Data show that HMGN2 inhibited the attachment of bacteria, and then decreased bacteria-induced ERK1/2 activation and actin polymerization, which might contribute to bacterial internalization into T24 cells. PMID: 21778192
15. propose that the ACTC E99K mutation causes higher myofibrillar Ca(2+) sensitivity that is responsible for the sudden cardiac death, apical hypertrophy, and subsequent development of heart failure in humans and mice. PMID: 21622575
16. Reduced ACTC1 expression might play a role in the onset of congenital heart defects through induction of cardiomyocyte apoptosis. PMID: 20962418
17. Variations in ACTC1 is associated with refractive errors and myopia. PMID: 20835239
18. E99K inhibits the activation of the thin filament by myosin strong-binding whereas R312H demonstrates enhanced calcium activation. PMID: 19799913
19. Screening of MYH7, cardiac ACTC and TNNI3 genes in dilated cardiomyopathy patients revealed two missense mutations, seven silent mutations, two polymorphisms in MYH7 gene, and two missense mutations and one silent mutation pertaining to TNNI3 gene. PMID: 20086309
20. actin has a function in cytoskeleton in mediating the spatial activation of Ras subfamily GTPases through the selective recruitment of GDP/GTP exchange factors PMID: 14988412
21. We present two cases, a father and son, with a novel missense mutation in the alpha actin gene.(Phe375Cys) PMID: 16967490
22. hypertrophic cardiomyopathy, left ventricular non-compaction (HCM and LVNC) may appear as overlapping entities. The ACTC E101K mutation should be considered in the genetic diagnosis of LVNC, apical HCM, and septal defects. PMID: 17611253
23. The results indicate that ACTC1 mutations or reduced ACTC1 levels may lead to atrial septal defect without signs of cardiomyopathy. PMID: 17947298
24. Functional effects of nemaline myopathy mutations on human skeletal alpha-actin. PMID: 18477565
25. Nine distinct mutations, 7 of them in MYH7, 1 in ACTC, and 1 in TNNT2, were found unrelated adult probands with left ventricular noncompaction and no other congenital heart anomalies PMID: 18506004
26. Gln(137) plays dual roles in actin polymerization, in both the conformational transition of the actin molecule and the mechanism of ATP hydrolysis PMID: 18515362
27. Data show that comparable levels of cardiac alpha-actin in the extraocular muscles of human, pig and sheep to those in the heart. PMID: 18952430

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HGNC: 143

OMIM: 102540

KEGG: hsa:70

STRING: 9606.ENSP00000290378

UniGene: Hs.118127