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Normal Function
The MEOX1 gene provides instructions for making a protein called homeobox protein MOX-1, which is a member of the homeobox protein family. Homeobox proteins direct the formation of body structures during early embryonic development. Homeobox protein MOX-1 regulates the process that begins separating vertebrae from one another, a process called somite segmentation. The protein functions as a transcription factor, which means it attaches to DNA and controls the activity (expression) of other genes. Homeobox protein MOX-1 likely controls the expression of genes that regulate somite segmentation. Homeobox protein MOX-1 also ensures that the developing vertebral bone is maintained in its correct position for proper formation. Additionally, the homeobox protein MOX-1 plays a role in the formation of the joints that connect the base of the skull and the top of spine (cranio-cervical joints).
Health Conditions Related to Genetic Changes
Klippel-Feil syndrome
At least three mutations in the MEOX1 gene have been found to cause Klippel-Feil syndrome. This condition is characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae) and a variety of other features affecting many parts of the body. The MEOX1 gene mutations result in a lack of functional homeobox protein MOX-1. While the effect of the loss of this protein on vertebral development is unclear, it is likely that absence of this protein leads to unregulated somite segmentation and incorrect vertebral positioning. As a result, the cervical vertebrae do not separate during development but instead are fused together. It is unclear why this condition affects the cervical vertebrae more severely than other bones.
More About This Health ConditionOther Names for This Gene
- homeobox protein MOX-1
- MEOX1_HUMAN
- MOX1
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Bayrakli F, Guclu B, Yakicier C, Balaban H, Kartal U, Erguner B, Sagiroglu MS, Yuksel S, Ozturk AR, Kazanci B, Ozum U, Kars HZ. Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype. BMC Genet. 2013 Sep 28;14:95. doi: 10.1186/1471-2156-14-95. Citation on PubMed or Free article on PubMed Central
- Douville JM, Cheung DY, Herbert KL, Moffatt T, Wigle JT. Mechanisms of MEOX1 and MEOX2 regulation of the cyclin dependent kinase inhibitors p21 and p16 in vascular endothelial cells. PLoS One. 2011;6(12):e29099. doi: 10.1371/journal.pone.0029099. Epub 2011 Dec 20. Citation on PubMed or Free article on PubMed Central
- Mohamed JY, Faqeih E, Alsiddiky A, Alshammari MJ, Ibrahim NA, Alkuraya FS. Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly. Am J Hum Genet. 2013 Jan 10;92(1):157-61. doi: 10.1016/j.ajhg.2012.11.016. Epub 2013 Jan 3. Citation on PubMed or Free article on PubMed Central
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