XB-FEAT-482739: Difference between revisions
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This is the community wiki page for the gene ''pax3'' please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase. | This is the community wiki page for the gene ''pax3'' please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase. | ||
=summary from NCBI= | =summary for human PAX3 from NCBI= | ||
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. In Humans, 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] | |||
Latest revision as of 12:17, 20 January 2021
pax3
This is the community wiki page for the gene pax3 please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase.
summary for human PAX3 from NCBI
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. In Humans, 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]