PAX3

Description

The PAX3 gene plays a crucial role in embryonic development, particularly in the formation of the neural crest, a group of cells that give rise to diverse tissues like bone, cartilage, and pigment cells. PAX3 encodes a transcription factor, a protein that regulates gene expression, influencing the development and function of various organs. Mutations in PAX3 can lead to a range of developmental disorders, highlighting its critical role in human health.

Associated Diseases

• Waardenburg syndrome (WS): Characterized by pigmentation abnormalities, hearing loss, and facial features like dystopia canthorum (widely spaced eyes).
• Neurofibromatosis type 1 (NF1): A disorder affecting the nervous system, leading to the formation of tumors.
• Rhabdomyosarcoma: A type of cancer that develops in skeletal muscle.

Did you know?

PAX3 is part of a family of genes involved in regulating development, and its name stands for ‘paired box gene 3.‘