ITT6050
ITT6050
- Catalog: ITT6050
- Gene/Protein: EYA3/4
- Product Description: Immunotag™ EYA1/EYA4 Polyclonal Antibody
385.0000
Price in reward points: 385
| Antibody Specification | |
| Datasheet | 
|
| Target Protein | EYA1/EYA4 |
| Clonality | Polyclonal |
| Storage/Stability | -20°C/1 year |
| Application | IHC-p,ELISA |
| Recommended Dilution | IHC-p 1:50-200, ELISA 1:10000-20000 |
| Concentration | 1 mg/ml |
| Reactive Species | Human,Mouse |
| Host Species | Rabbit |
| Immunogen | Synthetic peptide from human protein at AA range: 271-320 |
| Specificity | The antibody detects endogenous EYA1/EYA4 |
| Purification | The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen |
| Form | Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide. |
| Gene Name | EYA3/4 |
| Accession No. | Q99502/O95677 |
| Description | EYA transcriptional coactivator and phosphatase 1(EYA1) Homo sapiens This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome, branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment anomalies. A similar protein in mice can act as a transcriptional activator. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2013], |
| Protein Expression | Embryo,Kidney,PCR rescued clones,Peripheral blood, |
| Subcellular Localization | nucleus,nucleoplasm,cytoplasm,protein-DNA complex,protein complex, |
| Protein Function | catalytic activity:Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate.,cofactor:Binds 1 Mg(2+) ion per subunit.,developmental stage:Detected in cytoplasm of somite cells at the beginning of fourth week of development. Detected in cytoplasm of limb bud cell between the sixth and eighth week of development.,disease:Defects in EYA1 are the cause of branchiootic syndrome type 1 (BOS1) [MIM:602588]; also known as BO syndrome type 1 or branchiootic dysplasia. Individuals with BOS1 are affected by the same branchial and otic anomalies as those seen in individuals with BOR1, but lack renal anomalies.,disease:Defects in EYA1 are the cause of branchiootorenal syndrome type 1 (BOR1) [MIM:113650]; also known as Melnick-Fraser syndrome. BOR is an autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to mondini type cochlear defect and stapes fixation. Penetrance of BOR syndrome is high, although expressivity can be extremely variable.,disease:Defects in EYA1 are the cause of otofaciocervical syndrome [MIM:166780]. The syndrome is characterized by trophic alterations of the facies and shoulder girdle in addition to the malformations seen in BOR.,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. Seems to coactivate SIX2, SIX4 and SIX5. May be required for normal development of branchial arches, ear and kidney.,similarity:Belongs to the HAD-like hydrolase superfamily. EYA family.,subcellular location:Localizes at sites of DNA damage at double-strand breaks (DSBs).,subunit:Probably interacts with SIX2, SIX4 and SIX5.,tissue specificity:In the embryo, highly expressed in kidney with lower levels in brain. Weakly expressed in lung. In the adult, highly expressed in heart and skeletal muscle. Weakly expressed in brain and liver. No expression in eye or kidney., |
| Usage | For Research Use Only! Not for diagnostic or therapeutic procedures. |
| Material Safety Data Sheet | |
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