PAX3 wt Allele

Cancer Terms -> Gene -> Regulatory Gene -> Transcription Coregulator Gene -> Transcription Coactivator Gene -> PAX3 Gene -> PAX3 wt Allele

PAX3 wt Allele Definition

Human PAX3 wild-type allele is located within 2q35-q37 and is approximately 99 kb in length. This allele, which encodes paired box gene Pax-3 protein, plays a role in transcriptional regulation that is critical for fetal development. Mutations in this gene are associated with Waardenburg syndrome, and craniofacial-deafness-hand syndrome. In alveolar rhabdomyosarcoma, the wild type allele is involved in a translocation t(2;13)(q35;q14) with the FOXO1 wild-type allele.

PAX3 wt Allele Synonyms

PAX3 wt Allele, CDHS, HUP2, Paired Box Gene 3, Paired Box Gene 3 (Waardenburg Syndrome 1) wt Allele, Paired Domain Gene HuP2, WS1

Terms in PAX3 wt Allele category

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