EYA4 Antibody, FITC conjugated

說明書

中文名稱：

EYA4兔多克隆抗體, FITC偶聯
貨號：

CSB-PA007909LC01HU
規格：

￥880
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

產品名稱：

Rabbit anti-Homo sapiens (Human) EYA4 Polyclonal antibody
Uniprot No.：

O95677
基因名：

EYA4
別名：

CMD1J antibody; Deafness, autosomal dominant 10 antibody; DFNA 10 antibody; DFNA10 antibody; dJ78N10.1 (eyes absent (Drosophila) homolog 4) antibody; dJ78N10.1 (eyes absent) antibody; EYA 4 antibody; eya4 antibody; EYA4_HUMAN antibody; Eyes absent 4 antibody; Eyes absent homolog 4 (Drosophila) antibody; Eyes absent homolog 4 antibody; HGNC:3522 antibody; OTTHUMP00000040267 antibody
宿主：

Rabbit
反應種屬：

Human
免疫原：

Recombinant Human Eyes absent homolog 4 protein (153-224AA)
免疫原種屬：

Homo sapiens (Human)
標記方式：

FITC
克隆類型：

Polyclonal
抗體亞型：

IgG
純化方式：

>95%, Protein G purified
濃度：

It differs from different batches. Please contact us to confirm it.
保存緩沖液：

Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
產品提供形式：

Liquid
儲存條件：

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期：

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.
用途：

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產品評價

靶點詳情

功能：

Tyrosine phosphatase that specifically dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph). 'Tyr-142' phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress. Promotes efficient DNA repair by dephosphorylating H2AX, promoting the recruitment of DNA repair complexes containing MDC1. Its function as histone phosphatase probably explains its role in transcription regulation during organogenesis. May be involved in development of the eye.
基因功能參考文獻：
1. Overexpression of EYA4 enhanced glioma cell proliferation, and EYA4 suppressed the expression of p27Kip1 directly in these cells. PMID: 30231237
2. Although the clinical patient outcome of our 38 Colorectal Cancer patients was not associated with EYA4 promoter hypermethylation, the high frequency of this methylation and its high sensitivity and specificity to neoplastic cells may qualify EYA4 promoter methylation as a potential candidate screening marker in Iranian population and may help to improve early detection of CRC. PMID: 29436791
3. Eyes absent homolog 4 (Drosophila) protein (EYA4) is frequently hypermethylated in esophageal squamous cell carcinoma (ESCC) and may function as a tumor suppressor gene in the development of ESCC. PMID: 29660222
4. identified novel EYA4 mutation can be considered responsible of the hearing loss observed in the proband and her father, while a dual molecular diagnosis was reached in the relatives co-segregating the EYA4 and the PAX3 mutations PMID: 29287889
5. EYA4 hypermethylation is associated with colorectal cancer. PMID: 28351398
6. EYA4 functions as tumor suppressor gene in pancreatic ductal adenocarcinoma via repressing beta-catenin/ID2 activation, and was an independent prognostic factor in PDAC. PMID: 27378242
7. Low expression of EYA4 is associated with oral cancer. PMID: 27015871
8. We discovered two genome-wide significant SNPs. The first was novel and near ISG20. The second was in TRIOBP, a gene previously associated with prelingual nonsyndromic hearing loss. Motivated by our TRIOBP results, we also looked at exons in known hearing loss genes, and identified two additional SNPs, rs2877561 in ILDR1 and rs9493672 in EYA4 (at a significance threshold adjusted for number of SNPs in those regions). PMID: 27764096
9. Locus polymorphism of rs3813346 was associated with the risk of developing noise-induced hearing loss in the dominance model, the codominance model and the addictive model. Generalized multiple dimensionality reduction indicated that the combined interaction of the 2 loci-rs3813346 and rs9493627-significantly affected the incidence of noise-induced hearing loss. PMID: 27613755
10. Up to now, merely 7 loci have been linked to mid-frequency hearing loss. Only four genetic mid-frequency deafness genes, namely, DFNA10 (EYA4), DFNA8/12 (TECTA), DFNA13 (COL11A2), DFNA44 (CCDC50), have been reported to date. [review] PMID: 27142990
11. study identified EYA4 gene as targets for AML1-ETO and indicated it as a novel tumor suppressor gene. In addition, we provided evidence that EYA4 gene might be a novel therapeutic target and a potential candidate for treating AML1-ETO+ t (8;21) AML. PMID: 27231175
12. Loss of EYA4 expression is associated with intrahepatic cholangiocarcinoma. PMID: 27469137
13. The identification of a novel EYA4 truncation mutation associated with DFNA10, rather than syndromic hearing loss, supports a previously reported genotype-phenotype correlation in this gene. PMID: 26015337
14. results implicate Eya4/Six1 regulates normal cardiac function via p27/casein kinase-2alpha/histone deacetylase 2 and indicate that mutations within this transcriptional complex and signaling cascade lead to the development of cardiomyopathy. PMID: 26499333
15. In a Dutch family with c.464del EYA4 mutation, hearing impairment begins as a mid-frequency hearing impairment in childhood and develops into a high-frequency, moderate hearing impairment later in life. PMID: 26331839
16. Genetic variations in the EYA4, GRHL2 and DFNA5 genes and their interactions with occupational noise exposure may play an important role in the incidence of noise-induced hearing loss (NIHL). PMID: 26400775
17. analysis of an EYA4 mutation causing hearing loss in a Chinese DFNA family PMID: 25963406
18. A novel missense mutation c.1643C>G (p.T548R) in EYA4 may cause autosomal dominant non-syndromic hearing impairment. PMID: 25809937
19. EYA4 mutations are associated with autosomal dominant non-syndromic hearing loss. PMID: 25781927
20. Exome Sequencing Identifies a Mutation in EYA4 as a Novel Cause of Autosomal Dominant Non-Syndromic Hearing Loss PMID: 25961296
21. EYA4 methylation may be identified in stool samples. PMID: 25620232
22. Results provide molecular and clinical information in order to gain improved understanding of the pathogenesis of DFNA10 protein EYA4 mutations and the genotypephenotype correlations of DFNA10 hearing loss. PMID: 25242383
23. Autosomal dominant hearing impairment due to a novel EYA4 frameshift mutation:a novel heterozygous frame-shift mutation (c.579_580insTACC, p.(Asp194Tyrfs*52)) in EYA4 was identified that truncates the so-called variable region of the protein. PMID: 25681523
24. Low EYA4 expression is associated with hepatocellular carcinoma. PMID: 24306662
25. Work shows a clear role for EYA4 as a putative tumor suppressor genes in non-small-cell lung cancer. PMID: 24096489
26. High methylation of the EYA4 gene is associated with ulcerative colitis with colorectal cancer. PMID: 23867875
27. Serum methylation levels of TAC1, SEPT9, and EYA4 were significant discriminants between stage I colorectal cancer and healthy controls. PMID: 23862763
28. Observational study and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) PMID: 21061259
29. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) PMID: 20379614
30. EYA4 and hTERT mRNA expression increased with the severity of esophageal pathological changes and may be useful for identifying high-risk endoscopy candidates or for monitoring changes in premalignant esophageal lesions. PMID: 19939248
31. Findings identify a role of EYA4 and possibly interacting SIX and DACH proteins in MPNSTs and suggest the EYA4 pathway as a rational therapeutic target. PMID: 19901965
32. Mutation analysis of the EYA4 gene, which maps to 6q22.3, revealed an insertion of 4 bp (1558insTTTG) in affected family members with hereditary hearing impairment PMID: 12477971
33. Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss PMID: 15735644
34. Results show the first definitive cardiac evaluations of DFNA10 hearing loss to support a correlation of EYA4 mutation with/without the of dilated cardiomyopathy, and will facilitate the counseling of patients with these phenotypes and EYA4 mutations. PMID: 17567890
35. Study is the first report of a point mutation in EYA4 that is hypothesized to lead to aberrant pre-mRNA splicing and human disease. PMID: 17568404
36. Mice lacking the orthologous gene have severe hearing deficits, suggesting that some human otitis media susceptibility reflects underlying genetic predisposition in genes such as this one. PMID: 18219393
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相關疾病：

Deafness, autosomal dominant, 10 (DFNA10); Cardiomyopathy, dilated 1J (CMD1J)
亞細胞定位：

Cytoplasm. Nucleus.
蛋白家族：

HAD-like hydrolase superfamily, EYA family
組織特異性：

Highly expressed in heart and skeletal muscle.
數據庫鏈接：

HGNC: 3522

OMIM: 601316

KEGG: hsa:2070

STRING: 9606.ENSP00000347294

UniGene: Hs.596680

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