Variants
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EYA1 Gene

EYA transcriptional coactivator and phosphatase 1

ALIAS SYMBOLS

  • None

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Description

The EYA1 gene provides instructions for making a protein that plays a role in regulating the activity of other genes. Based on this role, the EYA1 protein is called a transcription factor or transcription coactivator.

The EYA1 protein interacts with several other proteins, including a group known as SIX proteins, to turn on (activate) and turn off (inactivate) genes that are important for normal development. Before birth, these protein interactions appear to be essential for the normal formation of many tissues. These include the second branchial arch, which gives rise to tissues in the front and side of the neck, and the eyes, ears, and kidneys. After birth, these interactions are important for normal organ function.

CHROMOSOME

8


LOCATION

q13.3


LOCUS TYPE

gene with protein product

VARIANTS

288

SEE THE VARIANTS →

Phenotypes

External Links

  • HGNC

    HGNC:3519

  • NCBI

    2138

  • OMIM

    601653

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