EYA1
EYA1
EYA1 (pronounced as "eye-ya-one") is a gene that encodes the EYA transcriptional coactivator and phosphatase 1. It is involved in the development of several organs, including the eyes, ears, and kidneys.
Etymology
The term "EYA1" is an abbreviation for "Eyes Absent Homolog 1", which is a reference to the gene's role in eye development. The gene was first identified in Drosophila, where mutations caused the absence of eyes, hence the name.
Function
The EYA1 gene provides instructions for making a protein that is involved in early development. This protein plays a critical role in the formation of several types of tissue, including nervous system tissue and muscle tissue. It is also involved in the development of the eyes, ears, and kidneys.
Related Terms
- EYA2, EYA3, EYA4: These are other members of the EYA family of genes. Like EYA1, they also play a role in organ development.
- Branchiootorenal Syndrome: This is a genetic disorder that can be caused by mutations in the EYA1 gene. It is characterized by abnormalities of the ears, kidneys, and neck.
- Otofaciocervical Syndrome: This is another genetic disorder that can be caused by mutations in the EYA1 gene. It is characterized by abnormalities of the face, ears, and neck.
External links
- Medical encyclopedia article on EYA1
- Wikipedia's article - EYA1
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