EYA4
Function
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 (By similarity).
Involvement in disease
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.
None
The disease is caused by variants 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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the HAD-like hydrolase superfamily. EYA family.
Tissue Specificity
Highly expressed in heart and skeletal muscle.
Cellular localization
- Cytoplasm
- Nucleus
Alternative names
Eyes absent homolog 4, EYA4