转录因子EYA1抗体
规格：1mg/1ml
英文名： EYA1
别名： BOP; BOR; Eya1; EYA1_HUMAN; eyes absent 1; eyes absent 1 homolog; eyes absent homolog 1 (Drosophila); Eyes absent homolog 1; eyes absent homolog1; MGC141875
分子量： 65kDa
储存液：Preservative: 15mM Sodium Azide, Constituents: 1% BSA, 0.01M
克隆类型：Polyclonal
亚型：IgG
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human EYA1
交叉反应：Human,
细胞定位：细胞核 细胞浆
转录因子EYA1抗体产品介绍：background: A gene on chromosome 8q13.3 encodes EYA1 (eyes absent), a protein with 16 exons. EYA1 is one of four members of the eyes absent family. A 271 amino acid domain at the carboxyl terminal is highly conserved amongst the members of the eyes absent family, while the PST (proline-serine-threonin)-rich amino terminal is highly divergent. EYA is expressed in flexor tendons and the developing central nervous system, kidney, eye and ear. EYA1 acts a transcriptional activator in connective tissue patterning through its PST domain, which functions as a transactivation domain. EYA1 plays a critical role in the development of the inner ear and kidney. EYA is involved in early inductive signaling, acting upstream of GDNF. EYA1 has been implicated in the autosomal dominant disorders branchio-oto-renal (BOR) syndrome and branhio-oto (BO) syndrome. 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. Subunit: Probably interacts with SIX2, SIX4 and SIX5. Subcellular Location: Cytoplasm. Nucleus. Localizes at sites of DNA damage at double-strand breaks. Tissue Specificity: In the embryo, highly expressed in kidney with lower levels in brain. Weakly expressed in lung. In the *****, highly expressed in heart and skeletal muscle. Weakly expressed in brain and liver. No expression in eye or kidney. Post-translational modifications: Sumoylated by SUMO1. 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转录因子EYA1抗体 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. Defects in EYA1 are the cause of otofaciocervical syndrome (OFCS) [MIM:166780]. The syndrome is characterized by trophic alterations of the facies and shoulder girdle in addition to the malformations seen in BOR. Defects in EYA1 are the cause of branchiootic syndrome type 转录因子EYA1抗体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. Similarity: Belongs to the HAD-like hydrolase superfamily. EYA family. Gene ID: 2138 Database links: Entrez Gene: 395718 Chicken Entrez Gene: 511188 Cow Entrez Gene: 477910 Dog Entrez Gene: 2138 Human Entrez Gene: 14048 Mouse Entrez Gene: 502935 Rat Omim: 601653 Human SwissProt: Q9YHA0 Chicken SwissProt: Q99502 Human SwissProt: P97767 Mouse Unigene: 491997 Human Unigene: 250185 Mouse Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
转录因子EYA1抗体产品应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
研究领域：发育生物学 表观遗传学
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid