OVOL1
Ovol1 Gene: A Key Player in Development, Disease, and Beyond
Description
The ovol1 gene, located on chromosome 11 in humans, encodes a transcription factor protein known as OVOL1. This protein plays a crucial role in regulating gene expression during embryonic development and in maintaining cellular homeostasis throughout life.
Associated Diseases
Mutations or dysregulation of the ovol1 gene have been linked to various diseases, including:
- Congenital heart defects: OVOL1 is essential for normal heart development. Mutations in the gene can cause septal defects, valve malformations, and other structural abnormalities.
- Craniofacial disorders: OVOL1 is involved in the development of facial structures. Mutations can lead to conditions such as cleft lip and palate, craniosynostosis (premature fusion of skull bones), and microcephaly (small head size).
- Neurodevelopmental disorders: OVOL1 plays a role in brain development. Mutations have been associated with autism spectrum disorder, intellectual disability, and schizophrenia.
Did you Know ?
- Research suggests that mutations in the ovol1 gene account for approximately 5% of cases of congenital heart defects.
