Species: Hu
Applications: WB, ICC/IF
Host: Goat Polyclonal
Species: Hu, Mu
Applications: WB, IHC
Host: Rabbit Monoclonal
Species: Hu, Rt, Bv
Applications: WB, ELISA, IHC, IP
Host: Goat Polyclonal
Species: Hu
Applications: WB
Species: Hu
Applications: AC
Species: Hu
Applications: AC
Description
PAX3 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 proteins 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.
Bioinformatics
Uniprot |
Human Human Human Human Human Human |
Product By Gene ID |
5077 |
Alternate Names |
- CDHS
- HuP2
- HUP2MGC120384
- MGC120381
- MGC120382
- MGC120383
- MGC134778
- paired box 3
- paired box gene 3 (Waardenburg syndrome 1)
- paired box homeotic gene 3
- paired box protein Pax-3
- paired domain gene 3
- paired domain gene HuP2
- Waardenburg syndrome 1
- WS1
- WS3
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