ALX homeobox 1
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L ALX1 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 ALX1 protein is necessary for normal development of the head and face, particularly the formation of the eyes, nose, and mouth, which begins around the fourth week of development. The ALX1 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 ALX1 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 ALX1 protein is necessary for normal development of the head and face, particularly the formation of the eyes, nose, and mouth, which begins around the fourth week of development. The ALX1 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
ALX homeobox protein 1
CART-1
CART1
cartilage paired-class homeoprotein 1
epididymis luminal protein 23
FND3
HEL23
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Ulteriori letture e riferimenti
- ALX homeobox 1; MedlinePlus, National Library of Medicine.
- Dee CT, Szymoniuk CR, Mills PE, Takahashi T. Defective neural crest migration revealed by a Zebrafish model of Alx1-related frontonasal dysplasia. Hum Mol Genet. 2013 Jan 15;22(2):239-51. doi: 10.1093/hmg/dds423. Epub 2012 Oct 11.
- 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.
- Uz E, Alanay Y, Aktas D, Vargel I, Gucer S, Tuncbilek G, von Eggeling F, Yilmaz E, Deren O, Posorski N, Ozdag H, Liehr T, Balci S, Alikasifoglu M, Wollnik B, Akarsu NA. Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia. Am J Hum Genet. 2010 May 14;86(5):789-96. doi: 10.1016/j.ajhg.2010.04.002. Epub 2010 May 6.
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