Primary Identifier | IPR028478 | Type | Family |
Short Name | EYA4 |
description | Members of the eye absent (EYA) family were originally characterised in fly eye development. EYA proteins are both transcriptional activators and tyrosine phosphatases [, ], and have been shown to dephosphorylate H2AX, promoting repair and cell survival in the response to DNA damage []. EYA proteins (EYA1-4) are normally expressed early in development [, ]. Their phosphatase activity regulates Six1-Dach-Eya transcriptional effects in precursor cell proliferation and survival in mammalian organogenesis [].EYA4 is also important post-developmentally. Mutations in EYA4 can cause late-onset deafness and cardiomyopathy [, ]. |