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 ?
Some studies have shown t (2; 8) (q35; q13) translocation, which involves PAX3, and t (4;22) (q35;q12), which involved EWSR1.
One of those genes, PAX3, seems to tweak the bridge of the nose; that gene was also identified by other researchers earlier that year.
En el limite entre ambos, en el borde de la placa neural, se diferencian las crestas neuralesa partir de la expresion temprana de marcadores especificos que incluyen diferentes factores de la transcripcion (Snaill, Snail2, AP2, Foxd3, PAX3, Sox9 y Zic5 entre otros).
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.
They then performed a transcription factor screening assay and found three transcription factors out of those 10 that are required for melanocytes: SOXIO, MITF, and PAX3, a combination dubbed SMP3.
The genes, PRDM16 and PAX3 were isolated from Caucasian, African American and Asian participants.
Vakalarin tama yakininda 2q35'de PAX3 mutasyonu tespit edilmistir.
Discordant phenotype of two overlapping deletions involving the PAX3 gene in chromosome 2q35.
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.