ACTG1 Antibody, FITC conjugated

Code CSB-PA02619C0Rb
Size US$299
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Product Details

Full Product Name Rabbit anti-Homo sapiens (Human) ACTG1 Polyclonal antibody
Uniprot No. P63261
Target Names ACTG1
Alternative Names ACT antibody; ACTB antibody; ACTG antibody; ACTG_HUMAN antibody; actg1 antibody; Actin antibody; Actin; cytoplasmic 2 antibody; Actin; gamma 1 antibody; Actin; gamma 1 propeptide antibody; Actin; gamma antibody; BRWS2 antibody; cytoplasmic 2 antibody; Cytoskeletal gamma actin antibody; Deafness; autosomal dominant 20 antibody; Deafness; autosomal dominant 26 antibody; DFNA20 antibody; DFNA26 antibody; epididymis luminal protein 176 antibody; Gamma-actin antibody; HEL-176 antibody; N-terminally processed antibody
Raised in Rabbit
Species Reactivity Human
Immunogen Recombinant Human Actin, cytoplasmic 2 protein (13-166AA)
Immunogen Species Homo sapiens (Human)
Conjugate FITC
Clonality Polyclonal
Isotype IgG
Purification Method >95%, Protein G purified
Concentration It differs from different batches. Please contact us to confirm it.
Buffer Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
Form Liquid
Troubleshooting and FAQs Antibody FAQs
Storage Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

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Target Background

Function
(From Uniprot)
Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.
Gene References into Functions
  1. A novel actin gamma 1 (ACTG1) de novo mutation is identified in two sporadic, juvenile, Chinese non-syndromic hearing loss (NSHL) cases using targeted high-throughput sequencing. PMID: 29357087
  2. Results identified ACTG1 with significant high expression in skin cancer tissue and suggested that ACTG1 can regulate the cell proliferation and migration through ROCK signaling pathway. PMID: 28727228
  3. a novel heterozygous missense mutation P32S in the ACTG1 gene was identified in a small family with autosomal dominant nonsyndromic hearing loss. The present findings expand our understanding of the phenotypes associated with ACTG1. Specifically, the results of the present study emphasized that mutations in ACTG1 result in a diverse spectrum of onset ages, including congenital in addition to post-lingual onset. PMID: 29620237
  4. Data reports a recurrent de novo mutation in ACTG1 causes isolated ocular coloboma PMID: 28493397
  5. We have identified a three-generation pedigree segregating a novel mutation in the ACTG1 gene that causes Baraitser-Winter Syndrome with extremely variable expressivity, leading to an initial diagnosis of isolated AD hearing loss in two members. PMID: 27096712
  6. we expand the clinical spectrum of the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome demonstrating the mild end of the facial and brain manifestations. PMID: 27240540
  7. Data indicate that F-actin is significantly elevated in septic shock, and F-actin and the F:G-actin ratio are potential biomarkers for the diagnosis of septic shock. PMID: 26754286
  8. a novel mutation in ACTG1 was found to be co-segregated with hearing loss and the genetic cause of autosomal dominant nonsyndromic hearing impairment in a Chinese family PMID: 26832775
  9. Three unrelated cases of rare ACTG1 variants in fetal microlissencephaly have been described. PMID: 26188271
  10. In this study we sought to clarify the detailed mutational spectrum, clinical features, and genotype-phenotype correlations for ACTG1 gene associated autosomal dominant sensorineural hearing loss PMID: 25792668
  11. The data, for the first time, link ASAP3 with ACTG1 in the regulation of cytoskeletal maintenance and cell motility PMID: 24284654
  12. The actin/MKL1 signalling pathway influences cell growth and gene expression through large-scale chromatin reorganization and histone post-translational modifications. PMID: 24762104
  13. the novel variant p.M305T in ACTG1 (DFNA20/26) was selected as a disease-causing variant. PMID: 23506231
  14. These results showed the biphasic F-actin dynamics in herpes simplex virus 1 neuronal infection and confirmed the association of F-actin with the changes in the expression and activity of cofilin 1. PMID: 22623803
  15. knockdown of gamma-actin significantly reduced speed of motility and severely affected the cell's ability to explore, which was, in part, due to a loss of cell polarity PMID: 21908715
  16. Cytoplasmic G-actin concentration is a critical parameter for determining the extent of stimulus-induced G-actin assembly and cell extension. PMID: 21502360
  17. actin participates in transcription elongation by recruiting Cdk9,a catalytic subunit of P-TEFb, for phosphorylation of the Pol II C-terminal domain, and the actin-Cdk9 interaction promotes chromatin remodeling PMID: 21378166
  18. RNA polymerase II accumulates in the promoter-proximal region of the dihydrofolate reductase and gamma-actin genes. PMID: 12612070
  19. the first description of a mutation in cytoskeletal, or nonmuscle, actin; with an autosomal dominant, progressive, sensorineural hearing loss phenotype PMID: 13680526
  20. A missense mutation in the gamma actin 1 gene causes autosomal dominant hearing loss. PMID: 14684684
  21. Our data are consistent with the idea that DP assembles into nascent junctions from both diffusible and particulate pools in a temporally overlapping series of events triggered by cell-cell contact and regulated by actin and DP-IF interactions. PMID: 16365169
  22. Espins do not activate the Arp2/3 complex in vitro, and bundle assembly is not indicative of in-vitro nucleation activity.Our results suggest a novel way to build actin bundles at specific sites in cells. PMID: 16569662
  23. A major factor in the deafness caused by gamma-actin mutations is an altered ability of the actin filaments to be properly regulated by actin-binding proteins rather than an inability to polymerize. PMID: 16690605
  24. the present results do not indicate that mutations in ACTG1 are a frequent cause of autosomal-dominant postlingual sensorineural hearing impairment in Norway nor Denmark. PMID: 16773128
  25. actin and vimentin filaments can interact directly through the tail domain of vimentin PMID: 16901892
  26. During cell membrane blebbing actin recruitment is involved in cortex assembly. PMID: 17088428
  27. In both AA and AL renal amyloidosis groups there were significant positive correlations between immunostaining of TGFbeta-1 and alpha-SMA. PMID: 17285762
  28. IQGAP1 regulates Salmonella invasion through interactions with actin, Rac1, and Cdc42 PMID: 17693642
  29. In this report we have used mutagenesis of the Talin1 I/LWEQ module to show that the amino acids responsible for dimerization are necessary for F-actin binding, stabilization and cross-linking of actin filaments, and focal adhesion targeting. PMID: 17722883
  30. analysis of the structural basis of profilin-actin complexes during filament elongation by Ena/VASP PMID: 17914456
  31. In this study, a novel missense mutation (c.364A>G; p.I122V) co-segregated with the affected individuals in the family and did not exist in the unaffected family members and 150 unrelated normal controls. PMID: 18804074
  32. Both RPEL peptides of the MAL protein bind to the G-actin hydrophobic cleft and to subdomain 3. PMID: 19008859
  33. Two novel ACTG1 missense mutations are associated with DFNA20/26 hearing impairment. PMID: 19477959
  34. audiometric phenotype of the Dutch DFNA20/26 family with a novel mutation in ACTG1 was largely consistent with previous reports on DFNA20/26. All suffered from hearing loss.This is the first known DFNA20/26 family that has experienced tinnitus. PMID: 19548389

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Involvement in disease Deafness, autosomal dominant, 20 (DFNA20); Baraitser-Winter syndrome 2 (BRWS2)
Subcellular Location Cytoplasm, cytoskeleton
Protein Families Actin family
Database Links

HGNC: 144

OMIM: 102560

KEGG: hsa:71

STRING: 9606.ENSP00000331514

UniGene: Hs.514581

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