{"symbol":"PAX3","synonyms":["HUP2","CDHS","WS1","WS3"],"name":"paired box 3","description":"This gene 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. [provided by RefSeq, Jul 2008]","ncbiEntrezGeneId":5077,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/5077","proteins":[{"symbol":"PAX3_HUMAN","href":"/api/1.0/protein/PAX3_HUMAN"}],"hgncRootFamilies":[{"name":"Paired boxes (PAX)","href":"/api/1.0/gene_family/Paired+boxes+%28PAX%29"},{"name":"Homeoboxes","href":"/api/1.0/gene_family/Homeoboxes"}]}