Home > A. Molecular pathology > PAXs
PAXs
Thursday 25 September 2003
The PAX genes encode a family of transcription factors that control development within the neural, myogenic, lymphoid, and a variety of other lineages.
Members
| PAX1 | PAX2 | PAX3 | PAX4 | PAX5 | PAX6 | PAX7 | PAX8 | PAX9 |
| PAX10 |
Pathology
PAX2 germline mutations in :
- papillorenal syndrome (renal-coloboma syndrome) (MIM.120330)
- isolated renal hypoplasia
PAX3 : PAX3/FOXO1A fusion transcript in alveolar rhabdomyosarcoma
PAX6
- deletions in aniridia and WAGR syndrome
- mutations in optic-nerve malformations, including coloboma, morning glory disc anomaly, optic-nerve hypoplasia/aplasia, and persistent hyperplastic primary vitreous
PAX7 : PAX7/FOXO1A fusion transcript in alveolar rhabdomyosarcoma
PAX8: PAX8/PPARgamma fusion gene in thyroid follicular tumors
References
Mercado GE, Barr FG. Fusions involving PAX and FOX genes in the molecular pathogenesis of alveolar rhabdomyosarcoma: recent advances. Curr Mol Med. 2007 Feb;7(1):47-61. PMID: 17311532
Kozmik Z. Pax genes in eye development and evolution. Curr Opin Genet Dev. 2005 Aug;15(4):430-8. PMID: 15950457
Robson EJ, He SJ, Eccles MR. A PANorama of PAX genes in cancer and development. Nat Rev Cancer. 2006 Jan;6(1):52-62. PMID: 16397527
Kozmik Z. Pax genes in eye development and evolution. Curr Opin Genet Dev. 2005 Jun 9; PMID: 15950457
Chi N, Epstein JA. Getting your Pax straight: Pax proteins in development and disease. Trends Genet. 2002 Jan;18(1):41-7. PMID: 11750700
Stuart ET, Gruss P. PAX genes: what’s new in developmental biology and cancer? Hum Mol Genet. 1995;4 Spec No:1717-20. PMID: 8541870
