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Reviewed January 2008
What is the official name of the EYA1 gene?
The official name of this gene is “EYA transcriptional coactivator and phosphatase 1.”
EYA1 is the gene's official symbol. The EYA1 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the EYA1 gene?
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 activate genes that are important for normal development. Before birth, these protein interactions appear to be essential for the normal formation of many tissues, including the second branchial arch (a structure that gives rise to tissues in the front and side of the neck) and the eyes, ears, and kidneys.
Does the EYA1 gene share characteristics with other genes?
The EYA1 gene belongs to a family of genes called PTP (protein tyrosine phosphatases).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.
How are changes in the EYA1 gene related to health conditions?
Where is the EYA1 gene located?
Cytogenetic Location: 8q13.3
Molecular Location on chromosome 8: base pairs 71,197,432 to 71,548,108
The EYA1 gene is located on the long (q) arm of chromosome 8 at position 13.3.
More precisely, the EYA1 gene is located from base pair 71,197,432 to base pair 71,548,108 on chromosome 8.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about EYA1?
You and your healthcare professional may find the following resources about EYA1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the EYA1 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding EYA1?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (10 links)