Definition of Pax3 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).Source: MedTerms™ Medical Dictionary Last Editorial Review:
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