Medical Definition of Pax3

  • Medical Author:
    William C. Shiel Jr., MD, FACP, FACR

    Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

Pax3: One in a family of Pax genes involved in regulating embryonic development at the level of transcription. The Pax3 gene is on chromosome 2 in band q35. It encodes a DNA-binding transcription factor that is expressed in the early embryo.

Mutation of Pax3 leads to Waardenburg syndrome with a wide bridge of the nose; pigmentary disturbances such as two different colored eyes, white forelock and eyelashes and premature graying of the hair; and some degree of nerve deafness.

The syndrome is named for a Dutch eye doctor named Petrus Johannes Waardenburg (1886-1979) who first noticed that people with differently colored eyes often had a hearing impairment. Pax3 is also known as WS1 (for Waardenberg syndrome I).

Reviewed on 12/21/2018

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