Synonym(s)
CDHS; HUP2; Paired box 3; WS1; WS3
DefinitionThis section has been translated automatically.
PAX3 is the acronym for Paired box 3, a member of the transcriptional PAX family, which in humans consists of 9 members (PAX1- PAX9). The human PAX3 gene is located on chromosome region 2q36.1. It codes for an important transcription factor. This is active in cells that originate from the neural crest. It is expressed in most tissues in the nucleolus.
Mutations in the PAX3 gene cause Waardenburg syndrome type 1 and type 2 (May T et al. 1993)
Mutations in the PAX3 gene cause leucism (spottiness of the coat) in animals
LiteratureThis section has been translated automatically.
- May T et al (1993) Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2 Nature Genetics: 26-30
Prof. Dr. med. Peter Altmeyer