Mouse eyes absent homolog 1 (Drosophila) ELISA Kit | EYA1 elisa kit
Mouse Eyes absent homolog 1, EYA1 ELISA Kit
NCBI and Uniprot Product Information
Uniprot Description
EYA1: 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. Defects in EYA1 are the cause of branchiootorenal syndrome type 1 (BOR1); 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. Defects in EYA1 are the cause of otofaciocervical syndrome (OFCS). 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 1 (BOS1); 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. Defects in EYA1 are the cause of anterior segment anomalies with or without cataract (ASA). 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. Belongs to the HAD-like hydrolase superfamily. EYA family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Motility/polarity/chemotaxis; EC 3.1.3.16; EC 3.1.3.48; Protein phosphatase, tyrosine (non-receptor); DNA repair, damage; Apoptosis; Cell development/differentiation
Cellular Component: protein complex; cell; cytoplasm; nucleus
Molecular Function: protein binding; hydrolase activity; RNA binding; metal ion binding; protein tyrosine phosphatase activity; phosphoprotein phosphatase activity
Biological Process: anatomical structure development; regulation of neuron differentiation; multicellular organismal development; positive regulation of transcription, DNA-dependent; ear morphogenesis; middle ear morphogenesis; protein amino acid dephosphorylation; regulation of transcription, DNA-dependent; establishment of mitotic spindle orientation; ureteric bud development; double-strand break repair; neuron fate specification; positive regulation of Notch signaling pathway; histone dephosphorylation; striated muscle development; inner ear morphogenesis; cell fate commitment; pharyngeal system development; positive regulation of DNA repair; transcription, DNA-dependent; outer ear morphogenesis; semicircular canal morphogenesis; establishment and/or maintenance of apical/basal cell polarity; chromatin modification; DNA repair; pattern specification process; embryonic skeletal morphogenesis; organ morphogenesis; protein sumoylation; ureteric bud branching; mesodermal cell fate specification; positive regulation of transcription from RNA polymerase II promoter; response to ionizing radiation; response to DNA damage stimulus; metanephros development; positive regulation of epithelial cell proliferation
Research Articles on EYA1
Similar Products
Product Notes
The Mouse EYA1 eya1 (Catalog #AAA9342758) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9342758 ELISA Kit recognizes Mouse EYA1. It is sometimes possible for the material contained within the vial of "eyes absent homolog 1 (Drosophila), ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
If you are ready to order, navigate to Shopping Cart and get ready to checkout.
