EYA4 Antibody – Rabbit Polyclonal

This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator through its protein phosphatase activity, and it may be important for eye development, and for continued function of the mature organ of Corti. Mutations in this gene are associated with postlingual, progressive, autosomal dominant hearing loss at the deafness, autosomal dominant non-syndromic sensorineural 10 locus. The encoded protein is also a putative oncogene that mediates DNA repair, apoptosis, and innate immunity following DNA damage, cellular damage, and viral attack. Defects in this gene are also associated with dilated cardiomyopathy 1J. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]

EYA4: 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. Defects in EYA4 are the cause of deafness autosomal dominant type 10 (DFNA10). 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). 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. Belongs to the HAD-like hydrolase superfamily. EYA family. 5 isoforms of the human protein are produced by alternative splicing.

Protein type: Protein phosphatase, tyrosine (non-receptor); EC 3.1.3.48

Chromosomal Location of Human Ortholog: 6q23

Cellular Component: cytoplasm; nucleus

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

Biological Process: anatomical structure morphogenesis; chromatin modification; DNA repair; multicellular organismal development; regulation of transcription, DNA-dependent; sensory perception of sound; transcription, DNA-dependent; visual perception

Disease: Cardiomyopathy, Dilated, 1j; Deafness, Autosomal Dominant 10