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EYA4 Rabbit pAb (bs-21590R)  
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產品編號 bs-21590R
英文名稱 EYA4 Rabbit pAb
中文名稱 EYA4蛋白抗體
別    名 CMD1J; Deafness, autosomal dominant 10; DFNA 10; DFNA10; dJ78N10.1(eyes absent(Drosophila) homolog 4); dJ78N10.1(eyes absent); EYA 4; eya4; EYA4_HUMAN; Eyes absent 4; Eyes absent homolog 4(Drosophila); Eyes absent homolog 4; HGNC:3522; OTTHUMP00000040267.  
研究領域 心血管  發育生物學  轉錄調節因子  表觀遺傳學  
抗體來源 Rabbit
克隆類型 Polyclonal
克 隆 號
交叉反應 Rat (predicted: Human,Mouse,Rabbit,Pig,Cow,Chicken,Dog)
產品應用 IHC-P=1:100-500,IHC-F=1:100-500,IF=1:100-500
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
理論分子量 70 kDa
檢測分子量
細胞定位 細胞核 細胞漿 
性    狀 Liquid
濃    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human EYA4: 131-230/639 
亞    型 IgG
純化方法 affinity purified by Protein A
緩 沖 液 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.
保存條件 Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles.
注意事項 This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMed PubMed
產品介紹 A gene of chromosome 6q23 encodes the 640 amino acid protein, EYA4 (eyes absent) (1). EYA is one of four members of the eyes absent family (1). A 271 amino acid domain at the carboxyl terminal is highly conserved amongst the members of the eyes absent family (1). EYA4 is expressed in the craniofacial mesenchyme, the dermamyotome, and the limb (1). The conserved region in other EYA proteins interacts with SIX, DACH, and G-proteins, which regulate transcription in early embryonic development (1,2,3,4). SIX translocates EYA1-3 to the nucleus, and G-proteins can stop this interaction (3,4). Premature stop codon mutations in EYA4 cause postlingual, progressive autosomal dominant hearing loss in humans (2). This shows that EYA4 is also vital to the mature organ of Corti (2). EYA4 may cause oculo-dento-digital syndrome, based on its expression pattern and map postion (1).

Function:
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.

Subcellular Location:
Cytoplasm. Nucleus.

Tissue Specificity:
Highly expressed in heart and skeletal muscle.

DISEASE:
Defects in EYA4 are the cause of deafness autosomal dominant type 10 (DFNA10) [MIM:601316]. DFNA10 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
Defects in EYA4 are the cause of cardiomyopathy dilated type 1J (CMD1J) [MIM:605362]. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

Similarity:
Belongs to the HAD-like hydrolase superfamily. EYA family.

SWISS:
O95677

Gene ID:
2070

Database links:

Entrez Gene: 2070 Human

Entrez Gene: 14051 Mouse

Omim: 603550 Human

SwissProt: O95677 Human

SwissProt: Q9Z191 Mouse



產品圖片
Paraformaldehyde-fixed, paraffin embedded (rat heart); Antigen retrieval by boiling in sodium citrate buffer (pH6.0) for 15min; Block endogenous peroxidase by 3% hydrogen peroxide for 20 minutes; Blocking buffer (normal goat serum) at 37°C for 30min; Antibody incubation with (EYA4) Polyclonal Antibody, Unconjugated (bs-21590R) at 1:400 overnight at 4°C, followed by operating according to SP Kit(Rabbit) (sp-0023) instructionsand DAB staining.
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