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Anti-EYA1 Antibody

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产品名称: Anti-EYA1 Antibody
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Anti-EYA1 Antibody


Anti-EYA1 Antibody  的详细介绍
Name: Anti-EYA1 Antibody
See all EYA1 primary antibodies
Description: Goat polyclonal antibody to EYA1.
Applications: ELISA, WB
Reactivity: Human
Immunogen: Synthetic peptide corresponding to Human EYA1 (internal region).
Sequence: C-TDPTAEYSTIHSP
Host: Goat
Clonality: Polyclonal
Isotype: IgG
Conjugate: Unconjugated
Purification: Purified from goat serum by ammonium sulphate precipitation followed by antigen affinity chromatography using the immunizing peptide.
Concentration: 100 µg at 0.5 mg/ml.
Product Form: Liquid
Formulation: Supplied in Tris Buffered Saline, pH 7.30, with 0.02% Sodium Azide and 0.5% BSA.
Storage: Shipped at 4°C. Upon delivery aliquot and store at -20°C. Avoid freeze / thaw cycles.
Function: Functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for SIX2, SIX4 and SIX5 (By similarity). Tyrosine phosphatase that dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph) and promotes efficient DNA repair via the recruitment of DNA repair complexes containing MDC1. '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 (PubMed:19234442). Its function as histone phosphatase may contribute to its function in transcription regulation during organogenesis (By similarity). Has also phosphatase activity with proteins phosphorylated on Ser and Thr residues (in vitro) (By similarity). Required for normal embryonic development of the craniofacial and trunk skeleton, kidneys and ears (By similarity). Together with SIX1, it plays an important role in hypaxial muscle development; in this it is functionally redundant with EYA2 (By similarity).
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.
Involvement in Disease: Branchiootorenal syndrome 1: A syndrome characterized by branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, structural defects of the outer, middle or inner ear, and renal malformations.

Otofaciocervical syndrome 1: A disorder characterized by facial dysmorphism, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability.

Branchiootic syndrome 1: A syndrome characterized by usually bilateral branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, and structural defects of the outer, middle or inner ear. Otic defects include malformed and hypoplastic pinnae, a narrowed external ear canal, bulbous internal auditory canal, stapes fixation, malformed and hypoplastic cochlea. Branchial and otic anomalies overlap with those seen in individuals with the branchiootorenal syndrome. However renal anomalies are absent in branchiootic syndrome patients.

Anterior segment anomalies with or without cataract: A disease characterized by various types of developmental eye anomalies, in the absence of other abnormalities. The phenotypic spectrum of anterior segment anomalies include central corneal opacity, Peters anomaly, and bilateral persistence of the pupillary membrane. Some patients have cataract.
Sequence Similarities: Belongs to the HAD-like hydrolase superfamily. EYA family.
Post-Translational Modification: Sumoylated with SUMO1.
Cellular Location: Cytoplasm. Nucleus.

Localizes at sites of DNA damage at double-strand breaks (DSBs).
Database Links:
  • Entrez Gene: 2138 Human
  • Omim: 601653 Human
  • SwissProt: Q99502 Human
  • Unigene: 491997 Human
    		•
    Synonyms:
  • BOP Antibody
  • BOR Antibody
  • BOS1 Antibody
  • EYA transcriptional coactivator and phosphatase 1 Antibody
  • EYA1 Antibody
  • EYA1_HUMAN Antibody
  • Eyes absent 1 Antibody
  • Eyes absent 1 homolog Antibody
  • Eyes absent homolog 1 Antibody
  • Eyes absent homolog 1 (Drosophila) Antibody
  • Eyes absent homolog1 Antibody
  • MGC141875 Antibody
  • OFC1 Antibody
    		•
    Information: Target information shown above is from the UniProt Consortium.
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