PAX3
PAX3 is a gene that provides instructions for producing a protein involved in the development of tissues and organs during embryonic growth. It plays a crucial role in the formation of muscles, bones, and the nervous system. Mutations in the PAX3 gene can lead to various developmental disorders.
One notable condition associated with PAX3 mutations is Waardenburg syndrome, which can cause hearing loss and changes in pigmentation of the hair, skin, and eyes. Understanding PAX3 is important for genetic research and can help in diagnosing and managing related health issues.