MEOX1 gene

mesenchyme homeobox 1

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).

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.

Cytogenetic Location: 17q21.31, which is the long (q) arm of chromosome 17 at position 21.31

Molecular Location: base pairs 43,640,389 to 43,661,977 on chromosome 17 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 17q21.31, which is the long (q) arm of chromosome 17 at position 21.31
  • homeobox protein MOX-1
  • MOX1