Aliases for PAX3 Gene
External Ids for PAX3 Gene
Previous HGNC Symbols for PAX3 Gene
Previous GeneCards Identifiers for PAX3 Gene
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]
GeneCards Summary for PAX3 Gene
PAX3 (Paired Box 3) is a Protein Coding gene. Diseases associated with PAX3 include Craniofacial-Deafness-Hand Syndrome and Waardenburg Syndrome, Type 1. Among its related pathways are Chromatin organization and Transcriptional misregulation in cancer. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and chromatin binding. An important paralog of this gene is PAX7.
UniProtKB/Swiss-Prot Summary for PAX3 Gene
Transcription factor that may regulate cell proliferation, migration and apoptosis. Involved in neural development and myogenesis. Transcriptional activator of MITF, acting synergistically with SOX10 (PubMed:21965087).