ALX homeobox 3
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L ALX3 gene provides instructions for making a protein that is a member of the homeobox protein family. Homeobox proteins direct the formation of body structures during early embryonic development. The ALX3 protein is necessary for normal development of the head and face, particularly the formation of the nose, which begins around the fourth week of development. The ALX3 protein is a transcription factor, which means that it attaches (binds) to DNA and controls the activity of certain genes. Specifically, the protein controls the activity of genes that regulate cell growth and division (proliferation) and movement (migration), ensuring that cells grow and stop growing at specific times and that they are positioned correctly during development.
Normal function
L ALX3 gene provides instructions for making a protein that is a member of the homeobox protein family. Homeobox proteins direct the formation of body structures during early embryonic development. The ALX3 protein is necessary for normal development of the head and face, particularly the formation of the nose, which begins around the fourth week of development. The ALX3 protein is a transcription factor, which means that it attaches (binds) to DNA and controls the activity of certain genes. Specifically, the protein controls the activity of genes that regulate cell growth and division (proliferation) and movement (migration), ensuring that cells grow and stop growing at specific times and that they are positioned correctly during development.
Conditions referring to this gene or chromosome
Altri nomi
aristaless-like homeobox 3
FND
FND1
frontonasal dysplasia
homeobox protein aristaless-like 3
proline-rich transcription factor ALX3
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Ulteriori letture e riferimenti
- ALX homeobox 3; MedlinePlus, National Library of Medicine.
- McGonnell IM, Graham A, Richardson J, Fish JL, Depew MJ, Dee CT, Holland PW, Takahashi T. Evolution of the Alx homeobox gene family: parallel retention and independent loss of the vertebrate Alx3 gene. Evol Dev. 2011 Jul-Aug;13(4):343-51. doi: 10.1111/j.1525-142X.2011.00489.x.
- Pham NS, Rafii A, Liu J, Boyadjiev SA, Tollefson TT. Clinical and genetic characterization of frontorhiny: report of 3 novel cases and discussion of the surgical management. Arch Facial Plast Surg. 2011 Nov-Dec;13(6):415-20. doi: 10.1001/archfacial.2011.684.
- Twigg SR, Versnel SL, Nurnberg G, Lees MM, Bhat M, Hammond P, Hennekam RC, Hoogeboom AJ, Hurst JA, Johnson D, Robinson AA, Scambler PJ, Gerrelli D, Nurnberg P, Mathijssen IM, Wilkie AO. Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene. Am J Hum Genet. 2009 May;84(5):698-705. doi: 10.1016/j.ajhg.2009.04.009. Epub 2009 Apr 30.
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