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The official name of this gene is “ALX homeobox 3.”
ALX3 is the gene's official symbol. The ALX3 gene is also known by other names, listed below.
The 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.
The ALX3 gene belongs to a family of genes called homeobox (homeoboxes).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
At least seven mutations in the ALX3 gene have been found to cause frontonasal dysplasia. ALX3 gene mutations cause a form of the disorder called frontonasal dysplasia type 1, which particularly affects the development of the nose and surrounding tissues. ALX3 gene mutations that cause this condition severely reduce or eliminate the function of the ALX3 protein. As a result, the protein cannot bind to DNA and regulate gene function, which leads to poorly controlled cell proliferation and migration during development. This abnormal cell growth and movement impairs development of structures in the middle of the face, particularly the nose, leading to openings (clefts) in the nose. This abnormal development can also interfere with the proper formation of the skull, leading to the skull malformations typical of frontonasal dysplasia type 1.
Cytogenetic Location: 1p13.3
Molecular Location on chromosome 1: base pairs 110,060,374 to 110,070,699
The ALX3 gene is located on the short (p) arm of chromosome 1 at position 13.3.
More precisely, the ALX3 gene is located from base pair 110,060,374 to base pair 110,070,699 on chromosome 1.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about ALX3 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
cell ; cell proliferation ; DNA ; dysplasia ; embryonic ; gene ; homeobox ; proliferation ; proline ; protein ; transcription ; transcription factor
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.