Pax3

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]

PAX3

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).

Anatomical structure developmentManual Assertion Based On ExperimentIBA:GO_Central
Animal organ morphogenesisManual Assertion Based On ExperimentTAS:ProtInc
Apoptotic processManual Assertion Based On ExperimentTAS:ProtInc
Muscle organ developmentIEA:UniProtKB-KW
Nervous system developmentIEA:UniProtKB-KW
Positive regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIDA:MGI
Positive regulation of transcription, DNA-templatedManual Assertion Based On ExperimentIDA:MGI
Regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Sensory perception of soundManual Assertion Based On ExperimentTAS:ProtInc

Nucleus

Waardenburg syndrome 1 (WS1):
WS1 is an autosomal dominant disorder characterized by non-progressive sensorineural deafness, pigmentary disturbances such as frontal white blaze of hair, heterochromia of irides, white eyelashes, leukoderma, and wide bridge of nose owing to lateral displacement of the inner canthus of each eye (dystopia canthorum). WS1 shows variable clinical expression and some affected individuals do not manifest hearing impairment or iris pigmentation disturbances. Dystopia canthorum is the most consistent sign and is found in 98% of the patients.
Waardenburg syndrome 3 (WS3):
WS3 is an autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, dystopia canthorum and limb anomalies such as hypoplasia of the musculoskeletal system, flexion contractures, fusion of the carpal bones, syndactylies.
Craniofacial-deafness-hand syndrome (CDHS):
Thought to be an autosomal dominant disease which comprises absence or hypoplasia of the nasal bones, hypoplastic maxilla, small and short nose with thin nares, limited movement of the wrist, short palpebral fissures, ulnar deviation of the fingers, hypertelorism and profound sensory-neural deafness.
Rhabdomyosarcoma 2 (RMS2):
A form of rhabdomyosarcoma, a highly malignant tumor of striated muscle derived from primitive mesenchymal cells and exhibiting differentiation along rhabdomyoblastic lines. Rhabdomyosarcoma is one of the most frequently occurring soft tissue sarcomas and the most common in children. It occurs in four forms: alveolar, pleomorphic, embryonal and botryoidal rhabdomyosarcomas.