PAX3 - Paired box homeotic gene 3 (Waardenburg syndrome 1) - aka: WS1, HUP2

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PAX3; Paired box homeotic gene 3 (Waardenburg syndrome 1) (2q35)
PAX3 Menu Summary Information - PAX3 Gene Database Entries for PAX3 Other PAX3 Related Resources t(2;13)(q35;q14) in Rhabdomyosarcoma Feedback / suggest a new topic for PAX3
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Summary Information
PAX3; Paired box homeotic gene 3 (Waardenburg syndrome 1) Location: 2q35 Aliases: WS1, HUP2 Overview: PAX genes are a family of transcription factors essential to the genesis of a variety of tissues and organs. Mutations leading to a loss of function in PAX3 are found in people with Waardenburg Syndrome indicating that PAX3 is necessary for the correct formation of caudal neural crest derivatives and for the migration of myoblasts into the limbs. Mutations of PAX3 leading to gain of function when fused with the FKHR gene (another transcription factor) are associated with alveolar rhabdomyosarcomas. Return to PAX3 Contents
Gene Database Entries for PAX3
OMIM GeneCard (Weizmann Institute) Human Gene Mutation Database (Cardiff, UK) Locus Link UniGene GenAtlas GDB Nomenclature (search for PAX3) Return to PAX3 Contents
Other Related Resources
Search Medline for related articles (PubMed) *Medline Search:* cancer AND gene AND (PAX3[TI] OR WS1[TI] OR HUP2[TI]) (PubMed) Limit search to: [Last Year] Limit search to: [Last 2 Years] Limit search to: [Reviews] Return to PAX3 Contents
t(2;13)(q35;q14) in Rhabdomyosarcoma
Alveolar rhabdomyosarcoma, a malignant tumour of skeletal muscle usually found in children and young adults, is characterised by a chromosomal translocation of the PAX3-FKHR genes: t(2;13)(q35;q14). Barr FG, et al. Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma. Nat Genet. 1993; 3:113-7 Related articles (PubMed) Shapiro DN, et al. Fusion of PAX3 to a member of the forkhead family of transcription factors in human alveolar rhabdomyosarcoma. Cancer Res. 1993; 53:5108-12 Related articles (PubMed) Bennicelli JL. et al. PAX3 and PAX7 exhibit conserved cis-acting transcription repression rhabdomyosarcoma. Oncogene 1999;18:4348-56 Related articles (PubMed) Barr FG The role of chimeric paired box transcription factors in the pathogenesis of pediatric rhabdomysarcoma. Cancer Res 1999; 59(7 Suppl):1711-5 Related articles (PubMed) *Medline Search:* rhabdomyosarcoma AND translocation AND chromosome 13 AND chromosome 2 (PubMed) Limit search to: [Last Year] Limit search to: [Last 2 Years] Limit search to: [Reviews] Related Resources PAX3 gene FKHR gene Childhood Soft Tissue Sarcoma Genetics Childhood Soft Tissue Sarcoma : Clinical and Epidemiological Information Return to PAX3 Contents
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PAX3; Paired box homeotic gene 3 (Waardenburg syndrome 1)