View source for Biology:ALX3

{{Infobox gene}}
The '''ALX3 gene''', also known as aristaless-like homeobox 3, is a [[Biology:Protein|protein]] coding [[Biology:Gene|gene]] that provides instructions to build a protein which is a member of the [[Biology:Homeobox|homeobox]] protein family.<ref>{{cite web|title=ALX3 ALX homeobox 3|url=https://www.ncbi.nlm.nih.gov/gene/257|accessdate=14 April 2015}}</ref> This grouping regulates patterns of [[Biology:Anatomy|anatomical]] development. The gene encodes a [[Biology:Nuclear protein|nuclear protein]] that functions as a transcription regulator involved in [[Biology:Cell|cell-type]] differentiation and development.

The ALX3 protein, encoded by the gene, is a [[Biology:Transcription factor|transcription factor]], meaning that it binds to [[Biology:DNA|DNA]] and obtains control over the action of other genes. The ALX3 protein specifically controls genes that regulate [[Biology:Cell growth|cell growth]], [[Biology:Cell proliferation|proliferation]], and [[Biology:Cell migration|migration]]. This protein is essential for the development of the head and [[Medicine:Face|face]], specifically the [[Medicine:Nose|nose]]. This event begins around the fourth week of development.

At least 7 [[Biology:Mutation|mutation]]s in the ALX3 gene are known to cause [[Medicine:Frontonasal dysplasia|frontonasal dysplasia]]. The mutations eliminate the function of the ALX3 protein, resulting in decreased ability to bind to DNA. The loss of regulatory function results in uncontrolled cell proliferation and migration during fetal development. One particular form of the disorder, called frontonasal dysplasia type 1, presents with abnormal development of structures in the middle of the face. The most common malformation of this defect is a cleft in the nose, lip, and palate.<ref>{{Cite web|url = http://www.proteinatlas.org/ENSG00000156150-ALX3/gene|title = ALX3|date = |accessdate = 10 May 2015|website = The Human Protein Atlas|publisher = |last = |first = }}</ref>

==References==
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== Further reading ==
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* {{cite journal | vauthors = McGonnell IM, Graham A, Richardson J, Fish JL, Depew MJ, Dee CT, Holland PW, Takahashi T | title = Evolution of the Alx homeobox gene family: parallel retention and independent loss of the vertebrate Alx3 gene | journal = Evolution & Development | volume = 13 | issue = 4 | pages = 343–51 | year = 2011 | pmid = 21740507 | pmc = 3166657 | doi = 10.1111/j.1525-142X.2011.00489.x }}
* {{cite journal | vauthors = Twigg SR, Versnel SL, Nürnberg G, Lees MM, Bhat M, Hammond P, Hennekam RC, Hoogeboom AJ, Hurst JA, Johnson D, Robinson AA, Scambler PJ, Gerrelli D, Nürnberg P, Mathijssen IM, Wilkie AO | title = Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene | journal = American Journal of Human Genetics | volume = 84 | issue = 5 | pages = 698–705 | year = 2009 | pmid = 19409524 | pmc = 2681074 | doi = 10.1016/j.ajhg.2009.04.009 }}
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{{Sourceattribution|ALX3|1}}