HOXD13
Description
The HOXD13 gene plays a crucial role in human development, particularly in the formation of limbs, genitalia, and other tissues. It encodes a transcription factor that acts as a master switch, regulating the expression of numerous genes involved in these developmental processes. Mutations in HOXD13 can lead to a range of congenital malformations, highlighting its importance in ensuring proper development.
Associated Diseases
- Synpolydactyly
- Brachydactyly
- Ulnar-mammary syndrome
- Genital abnormalities
- Craniofacial abnormalities
Did you know?
HOXD13 is one of the last genes to be expressed during limb development, suggesting its role in fine-tuning the final stages of limb formation.