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The official name of this gene is “EYA transcriptional coactivator and phosphatase 4.”
EYA4 is the gene's official symbol. The EYA4 gene is also known by other names, listed below.
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]
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.
Deafness, autosomal dominant, 10 (DFNA10): A form of non-syndromic 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. The disease is caused by mutations affecting the gene represented in this entry.
Cardiomyopathy, dilated 1J (CMD1J): A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD1J is characterized by the association of sensorineural hearing loss and dilated cardiomyopathy in the absence of other anomalies. The disease is caused by mutations affecting the gene represented in this entry.
|601316 (http://omim.org/entry/601316)||DEAFNESS, AUTOSOMAL DOMINANT 10|
|605362 (http://omim.org/entry/605362)||CARDIOMYOPATHY, DILATED, 1J|
|603550 (http://omim.org/entry/603550)||EYES ABSENT 4|
Cytogenetic Location: 6q23
Molecular Location on chromosome 6: base pairs 133,241,335 to 133,532,120
The EYA4 gene is located on the long (q) arm of chromosome 6 at position 23.
More precisely, the EYA4 gene is located from base pair 133,241,335 to base pair 133,532,120 on chromosome 6.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about EYA4 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
alternative splicing ; apoptosis ; arrhythmia ; autosomal ; autosomal dominant ; cardiomyopathy ; dilated ; dilation ; DNA ; DNA damage ; DNA repair ; gene ; heart failure ; histone ; innate immunity ; isoforms ; locus ; oncogene ; phosphatase ; phosphorylation ; postlingual ; protein ; sensorineural ; sensorineural hearing loss ; splicing ; stress ; transcript ; transcription ; Tyr ; tyrosine
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.