Gene Symbol | PAX3 |
Entrez Gene ID | 5077 |
Full Name | paired box 3 |
Synonyms | CDHS,HUP2,WS1,WS3 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Waardenburg syndrome, type 1, 193500 (3); Waardenburg syndrome, type 3, 148820 (3); Craniofacial-deafness-hand syndrome, 122880 (3); Rhabdomyosarcoma 2, alveolar, 268220 (3) |