Entrez gene ID | | 5077 |
Official gene symbol | | PAX3 |
Full name | | paired box 3 |
Aliases | | ,CDHS,HUP2,MGC120381,MGC120382,MGC120383,MGC120384,MGC134778,WS1,WS3, |
Gene summary | | This 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] |
Location | | Chromosome: 2 Locus: 2q35-q37|2q35 |
Gene position | | 223163715 - 223064606 Map Viewer |
Gene orientation | | minus |
Gene size | | 99110 bp |
Gene sequence |
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OMIM ID | | 606597 |
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