SPRY3
The SPRY3 Gene: A Key Player in Development and Disease
Description
The SPRY3 gene (sprouty RTK signaling antagonist 3) is an essential gene that plays a crucial role in regulating cell growth, differentiation, and development. It encodes a protein called SPRY3, which belongs to the SPRY family of proteins. SPRY proteins are known for their ability to inhibit the activity of receptor tyrosine kinases (RTKs), which are involved in signal transduction pathways that control cellular processes.
Associated Diseases
Mutations in the SPRY3 gene have been linked to several human diseases, including:
- Schinzel-Giedion Syndrome: A rare genetic disorder characterized by distinctive facial features, intellectual disability, and skeletal abnormalities.
- Craniosynostosis: A condition in which the skull bones fuse prematurely, limiting brain growth.
- Deafness: Some mutations in SPRY3 have been associated with hearing loss.
- Cancer: Overexpression or gain-of-function mutations in SPRY3 have been implicated in the development of certain types of cancer, such as lung cancer and breast cancer.
Did you Know ?
Approximately 1 in 100,000 individuals are affected by Schinzel-Giedion Syndrome, which is caused by mutations in the SPRY3 gene.
