PAX3

Notation for Waardenburg types 1 and 3 syndrome gene.

PAX3

A gene on chromsome 2q35-q37 that encodes a member of the paired box (PAX) family of transcription factors, which usually have a paired box domain and a paired homeodomain, and play key roles in foetal development.
Molecular pathology
PAX3 mutations are associated with Waardenburg syndrome and craniofacial-deafness-hand syndrome. The translocation t(2;13)(q35;q14), which results in a fusion between PAX3 and the forkhead gene, is often present in alveolar rhabdomyosarcoma.

单词	pax3
释义	PAX3 PAX3 Notation for Waardenburg types 1 and 3 syndrome gene. PAX3 A gene on chromsome 2q35-q37 that encodes a member of the paired box (PAX) family of transcription factors, which usually have a paired box domain and a paired homeodomain, and play key roles in foetal development. Molecular pathology PAX3 mutations are associated with Waardenburg syndrome and craniofacial-deafness-hand syndrome. The translocation t(2;13)(q35;q14), which results in a fusion between PAX3 and the forkhead gene, is often present in alveolar rhabdomyosarcoma.
随便看	fw-cadis fwcas fwcb fw-cbcpw fwcbs fwcc fwcca fwccu fwcd fwcds fwced genus macleaya genus maclura genus macowanites genus macrocephalon genus macrocheira genus macroclemys genus macrodactylus genus macronectes genus macropus genus macrothelypteris genus macrotis genus macrotus genus macrotyloma genus macrozamia