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2 Shaker Rd Suites
B001/B101
Shirley, MA 01464
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20700 44th Avenue W
Lynnwood, WA 98036
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order histories, retained contact details for faster checkout, review submissions, and special promotions.
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PAX3
paired box 3
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 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.
| Gene Name: | paired box 3 |
| Synonyms: | PAX3, CDHS, Paired domain gene 3, Paired box protein Pax-3, Paired domain gene HuP2, Waardenburg syndrome 1, WS1, HUP2, Paired box 3, Paired box homeotic gene 3, WS3 |
| Target Sequences: | NM_000438 NP_000429.2 |
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