PAX3


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PAX3

Notation for Waardenburg types 1 and 3 syndrome gene.

PAX3

A gene on chromsome 2q35-q37 that encodes a member of the paired box (PAX) family of transcription factors, which usually have a paired box domain and a paired homeodomain, and play key roles in foetal development.

Molecular pathology
PAX3 mutations are associated with Waardenburg syndrome and craniofacial-deafness-hand syndrome. The translocation t(2;13)(q35;q14), which results in a fusion between PAX3 and the forkhead gene, is often present in alveolar rhabdomyosarcoma.
References in periodicals archive ?
Children with fusion-negative tumours lack a particular genetic defect often found in rhabdomyosarcoma that results in two genes, called PAX3 and FOXO1, becoming fused together.
This complex process is governed by a network of transcription factors, such as PAX3 and SOX10 and mutations in these genes have been associated with developmental syndromes.
The genes, PRDM16 and PAX3 were isolated from Caucasian, African American and Asian participants.
In longissimus muscle tissue expression during growth in the porcine, E2F1 also showed a significant relationship with differential expressed genes as a transcription factor with myogenin and PAX3 (D'Andrea et al.
Melanomas also may differ in their protein signaling pathways as a function of the degree of chronic sun exposure; for example, the transcription factor PAX3 is more commonly expressed in melanomas with low or no evidence of UV damage.
Vakalarin tama yakininda 2q35'de PAX3 mutasyonu tespit edilmistir.
WS type 1 and 3 have been associated with mutations in the PAX3 gene; WS type 2 with the MITF gene; and WS type 4 with the EDNRB and EDN3 genes.
PAX3 - Portion Waardenburg syndrome, indicating the occurrence of deafness and changes in pigmentation, including a white forelock.
The ZebraLink SDK allows developers to create a print application on a variety of Apple devices for the following Zebra printers: Multiple printer models supported - XiIIIPlus, Xi4, 105SL, ZM400/ZM600, S4M, PAX3, PAX4, G-Series, HC100, MZ-Series, QLPlus -Series, RW-Series, P4T and RP4T.
Recurrent t(2;2) and t(2;8) translocations in rhabdomyosarcoma without the canonical PAX-FOXO1 fuse PAX3 to members of the nuclear receptor transcriptional coactivator family.
Analysis of select folate pathway genes, PAX3, and human T in a midwestern neural tube defect population.