Paired Box Protein Pax-3
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Paired Box Protein Pax-3 Definition
Paired Box Protein Pax-3, encoded by the PAX3 gene, is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. Mutations in paired box gene 3 are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome, and alveolar rhabdomyosarcoma. The translocation t(2;13)(q35;q14), which represents a fusion between PAX3 and the forkhead gene, is a frequent finding in alveolar rhabdomyosarcoma. Alternative splicing results in transcripts encoding isoforms with different C-termini. (from LocusLink)
Paired Box Protein Pax-3 Synonyms
Paired Box Protein Pax-3, PAX3, PAX3/FKHR Fusion Gene, Paired Box Homeotic Gene 3, Paired Domain Gene 3, Paired Domain Gene HuP2
Terms in Paired Box Protein Pax-3 category
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