Gene Protein Transcript Blast result Transcript specific probe-cluster
Gene information for PAX3 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID5077
Official gene symbolPAX3
Full namepaired box 3
Gene summaryThis 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. [provided by RefSeq]
LocationChromosome: 2   Locus: 
Gene position223163715 - 223064606  Map Viewer
OMIM ID606597