Human eyes absent homolog 1 (Drosophila) ELISA Kit | EYA1 elisa kit

Human Eyes absent homolog 1, EYA1 ELISA Kit

Cat. Num. AAA9317898

• Gene Names: EYA1; BOP; BOR; BOS1; OFC1
• Reactivity: Human
• Synonyms: eyes absent homolog 1 (Drosophila); Human Eyes absent homolog 1; EYA1 ELISA Kit; Human Eyes absent homolog 1 (EYA1) ELISA kit; BOP; BOR; MGC141875; OTTHUMP00000195055; eyes absent 1; EYA1 elisa kit

• Reactivity: Human
• Specificity: No significant cross-reactivity or interference between Human EYA1 and analogues was observed.

• Samples: Serum, Plasma, Tissue Homogenate, Feces and Urine
• Assay Type: Sandwich
• Detection Range: 62.5 pg/ml - 2000 pg/ml.
• Sensitivity: 10 pg/ml.
• Intended Uses: This Quantitative Sandwich ELISA kit is only for in vitro research use only, not for drug, household, therapeutic applications! It is intended to be determinated EYA1 concentrations in Human serum, plasma and other body fluids. Using Purified Human EYA1 antibody to coat Microelisa Stripplate wells to make solid-phase antibody, then add EYA1 and EYA1 antibody which has been labeled with HRP to wells, then the reactants become antibody-antigen-antibody-enzyme complex, after washing completely, add TMB substrate solution, TMB substrate becomes blue color under HRP enzyme-catalyzed, reaction is terminated by the addition of a sulphuric acid solution and the color change is measured spectrophotometrically at a wavelength of 450 nm. The concentration of EYA1 in the samples is then determined by comparing the O.D. of the samples to the standard curve.
• Intra-assay Precision: Intra-assay CV (%) is less than 15%.
• Inter-assay Precision: Inter-assay CV (%) is less than 15%. [CV(%) = SD/mean ×100]
• Preparation and Storage: Store all reagents at 2-8 degree C

Related Product Information for EYA1 elisa kit

Background: This Quantitative Sandwich ELISA kit is only for in vitro research use only! It is intended to be determinated EYA1 concentrations in Human serum, plasma and other body fluids. Using Purified Human EYA1 antibody to coat Microelisa Stripplate wells to make solid-phase antibody, then add EYA1 and EYA1 antibody which has been labeled with HRP to wells, then the reactants become antibody-antigen-antibody-enzyme complex, after washing completely, add TMB substrate solution, TMB substrate becomes blue color under HRP enzyme-catalyzed, reaction is terminated by the addition of a sulphuric acid solution and the color change is measured spectrophotometrically at a wavelength of 450 nm. The concentration of EYA1 in the samples is then determined by comparing the O.D. of the samples to the standard curve.

NCBI and Uniprot Product Information

• NCBI GI #: 19923100
• NCBI GeneID: 2138
• NCBI Accession #: NP_000494.2
• NCBI GenBank Nucleotide #: NM_000503.5
• UniProt Accession #: Q99502; Q0P516; Q8WX80; A6NHQ0; G5E9R4
• Molecular Weight: 64,593 Da
• NCBI Official Full Name: eyes absent homolog 1 isoform 1
• NCBI Official Synonym Full Names: EYA transcriptional coactivator and phosphatase 1
• NCBI Official Symbol: EYA1
• NCBI Official Synonym Symbols: BOP; BOR; BOS1; OFC1
• NCBI Protein Information: eyes absent homolog 1
• UniProt Protein Name: Eyes absent homolog 1
• Protein Family: Eyes absent
• UniProt Gene Name: EYA1
• UniProt Entry Name: EYA1_HUMAN

NCBI Description

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]

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; DNA repair, damage; Apoptosis; Cell development/differentiation; Protein phosphatase, tyrosine (non-receptor); EC 3.1.3.48

Chromosomal Location of Human Ortholog: 8q13.3

Cellular Component: cytoplasm; nucleus

Molecular Function: protein binding; RNA binding; metal ion binding; protein tyrosine phosphatase activity

Biological Process: histone dephosphorylation; striated muscle development; anatomical structure morphogenesis; positive regulation of DNA repair; pharyngeal system development; transcription, DNA-dependent; regulation of neuron differentiation; outer ear morphogenesis; semicircular canal morphogenesis; establishment and/or maintenance of apical/basal cell polarity; middle ear morphogenesis; pattern specification process; embryonic skeletal morphogenesis; sensory perception of sound; protein sumoylation; establishment of mitotic spindle orientation; ureteric bud branching; double-strand break repair; neuron fate specification; positive regulation of transcription from RNA polymerase II promoter; response to ionizing radiation; metanephros development; positive regulation of Notch signaling pathway; positive regulation of epithelial cell proliferation

Disease: Branchiootic Syndrome 1; Otofaciocervical Syndrome 1; Branchiootorenal Syndrome 1