Overview

Description

  • NatureSynthetic
  • Amino Acid Sequence
    • SpeciesHuman
    • SequenceEDSQDLNEQSVKKTC
    • Amino acids2 to 16

Associated products

Specifications

Our Abpromise guarantee covers the use of ab48040 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Applications

    Blocking - Blocking peptide for Anti-EYA4 antibody - Aminoterminal end (ab47990)

  • FormLiquid
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped at 4°C. Upon delivery aliquot and store at -20°C. Avoid freeze / thaw cycles.

General Info

  • Alternative names
    • CMD1J
    • Deafness, autosomal dominant 10
    • DFNA 10
    • DFNA10
    • dJ78N10.1 (eyes absent (Drosophila) homolog 4)
    • dJ78N10.1 (eyes absent)
    • EYA 4
    • eya4
    • EYA4_HUMAN
    • Eyes absent 4
    • Eyes absent homolog 4
    • Eyes absent homolog 4 (Drosophila)
    • HGNC:3522
    • OTTHUMP00000040267
    see all
  • FunctionTyrosine 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.
  • Tissue specificityHighly expressed in heart and skeletal muscle.
  • Involvement in diseaseDefects 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.
  • Sequence similaritiesBelongs to the HAD-like hydrolase superfamily. EYA family.
  • Cellular localizationCytoplasm. Nucleus.
  • Information by UniProt

References for Human EYA4 peptide (ab48040)

ab48040 has not yet been referenced specifically in any publications.

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