PAX3 (paired box gene 3 (Waardenburg syndrome 1))

GWB-C161D2

1:1562500

Suggested starting concentrations are provided. Optimal dilutions should be determined by end-user. Differences in calculated versus apparent molecular weight may be due to post-translational modifications or protein hydrophobicity. PAX3 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. 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.

Can bind to DNA as a heterodimer with PAX7. Interacts with DAXX.

Defects in PAX3 are the cause of Waardenburg syndrome type 1 (WS1) [MIM:193500]. WS1 is an autosomal dominant disorder characterized by wide bridge of nose owing to lateral displacement of the inner canthus of each eye (dystopia canthorum) pigmentary disturbances such as frontal white blaze of hair heterochromia of irides white eyelashes leukoderma and sensorineural deafness. The syndrome shows variable clinical expression and some affected individuals do not manifest hearing impairment.

Defects in PAX3 are the cause of craniofacial-deafness-hand syndrome (CDHS) [MIM:122880]. CDHS is 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.

A chromosomal aberration involving PAX3 is a cause of rhabdomyosarcoma. Translocation t(2; 2)(q35; p23) with NCOA1 generates the NCOA1-PAX3 oncogene consisting of the N-terminus part of PAX3 and the C-terminus part of NCOA1. The fusion protein acts as a transcriptional activator. Rhabdomyosarcoma is the most common soft tissue carcinoma in childhood representing 5-8% of all malignancies in children.

Contains 1 homeobox DNA-binding domain.