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MEOX1 gene
URL of this page: https://medlineplus.gov/genetics/gene/meox1/

MEOX1 gene

mesenchyme homeobox 1

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 development. 

Homeobox protein MOX-1 is a transcription factor, which means it attaches to DNA and controls the activity (expression) of other genes. Through this function, the protein likely controls the expression of genes that regulate a process called somite segmentation. Somite segmentation separates the bones of the spine (vertebrae) from one another. Homeobox protein MOX-1 also ensures that the developing vertebral bone maintains the 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

Variants (also called 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 neck (cervical) vertebrae and a variety of other features that affect many parts of the body. The MEOX1 gene variants that cause Klippel-Feil syndrome typically prevent cells from producing the normal amount of functional homeobox protein MOX-1. While it is unclear exactly how the loss of this protein affects vertebral development, it likely leads to unregulated somite segmentation and incorrect vertebral positioning. As a result, the cervical vertebrae do not completely separate during development. It is unclear why the cervical vertebrae are affected more severely than other bones in people with Klippel-Feil syndrome.

More About This Health Condition

Other Names for This Gene

  • homeobox protein MOX-1
  • KFS2
  • mesenchyme homeo box 1
  • MOX1

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

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
  • Frikha R. Klippel-Feil syndrome: a review of the literature. Clin Dysmorphol. 2020 Jan;29(1):35-37. doi: 10.1097/MCD.0000000000000301. Citation on PubMed
  • Jae-Min Park A, Nelson SE, Mesfin A. Klippel-Feil Syndrome: Clinical Presentation and Management. JBJS Rev. 2022 Feb 15;10(2). doi: 10.2106/JBJS.RVW.21.00166. Citation on PubMed
  • Litrenta J, Bi AS, Dryer JW. Klippel-Feil Syndrome: Pathogenesis, Diagnosis, and Management. J Am Acad Orthop Surg. 2021 Nov 15;29(22):951-960. doi: 10.5435/JAAOS-D-21-00190. Citation on PubMed
  • Menger RP, Rayi A, Notarianni C. Klippel Feil Syndrome. 2024 May 11. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. Available from http://www.ncbi.nlm.nih.gov/books/NBK493157/ Citation on PubMed
  • 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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