" /> PAX3 wt Allele - CISMeF





Preferred Label : PAX3 wt Allele;

NCIt synonyms : Paired Box Homeotic Gene 3; Paired Box Gene 3 (Waardenburg Syndrome 1) wt Allele; HUP2; CDHS; Paired Domain Gene HuP2; Paired Box Gene 3; WS1; WS3;

NCIt 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. Also, mutations or translocations involving the gene are associated with alveolar rhabdomyosarcoma. The rhabdomyosarcoma-related PAX3 gene translocations include t(2;13)(q35;q14) with the FOXO1 gene and t(2;2)(q35;p23) with the NCOA1 gene.;

GenBank Accession Number : NM_013942;

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07/05/2024


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