追加情報This antibody gave a positive result in ELISA against the immunizing peptide. Antibody detection limit dilution 1:128,000.
Western Blot: Preliminary experiments gave an approx 50kDa band in Human and Mouse Brain lysates and in Pituitary Mouse cell line NIH 3T3 after 0.1µg/ml antibody staining. Please note that currently we cannot find an explanation in the literature for the band we observe given the calculated sizes of 69.5kDa, 67.1kDa and 69.4kDa according to NP_004091.2, NP_742102.1 and NP_742103.1 respectively. The 50kDa band was successfully blocked by incubation with the immunizing peptide.
Not yet tested in other applications.
Optimal dilutions/concentrations should be determined by the end user.
機能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. May be involved in development of the eye.
組織特異性Highly expressed in heart and skeletal muscle.
関連疾患Defects in EYA4 are the cause of deafness autosomal dominant type 10 (DFNA10) [MIM:601316]. DFNA10 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Defects in EYA4 are the cause of cardiomyopathy dilated type 1J (CMD1J) [MIM:605362]. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
配列類似性Belongs to the HAD-like hydrolase superfamily. EYA family.