mesenchyme homeobox 1
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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.
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).
Conditions referring to this gene or chromosome
Other names
homeobox protein MOX-1
KFS2
mesenchyme homeo box 1
MOX1
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Leitura adicional e referências
- mesenchyme homeobox 1; MedlinePlus, National Library of Medicine.
- 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.
- 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.
- Frikha R. Klippel-Feil syndrome: a review of the literature. Clin Dysmorphol. 2020 Jan;29(1):35-37. doi: 10.1097/MCD.0000000000000301.
- 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.
- 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.
- Menger RP, Rayi A, Notarianni C. Klippel Feil Syndrome. 2024 May 11. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. Available from http://www.ncbi.nlm.nih.gov/books/NBK493157/
- 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.
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