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Pax3 gene

Author:Prof. Dr. med. Peter Altmeyer

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Last updated on: 22.07.2024

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Synonym(s)

CDHS; HUP2; Paired box 3; WS1; WS3

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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.

  1. May T et al (1993) Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2 Nature Genetics: 26-30

Authors

Last updated on: 22.07.2024

Author: Prof. Dr. med. Peter Altmeyer