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#