jueves, 21 de mayo de 2015

MEOX1 - mesenchyme homeobox 1 - Genetics Home Reference

MEOX1 - mesenchyme homeobox 1 - Genetics Home Reference

Genetics Home Reference: your guide to understanding genetic conditions


What is the official name of the MEOX1 gene?

The official name of this gene is “mesenchyme homeobox 1.”
MEOX1 is the gene's official symbol. The MEOX1 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.

What is the normal function of the MEOX1 gene?

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).

Does the MEOX1 gene share characteristics with other genes?

The MEOX1 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? in the Handbook.

How are changes in the MEOX1 gene related to health conditions?

Klippel-Feil syndrome - caused by mutations in the MEOX1 gene
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.

Where is the MEOX1 gene located?

Cytogenetic Location: 17q21
Molecular Location on chromosome 17: base pairs 43,640,388 to 43,661,953
The MEOX1 gene is located on the long (q) arm of chromosome 17 at position 21.
The MEOX1 gene is located on the long (q) arm of chromosome 17 at position 21.
More precisely, the MEOX1 gene is located from base pair 43,640,388 to base pair 43,661,953 on chromosome 17.

Where can I find additional information about MEOX1?

You and your healthcare professional may find the following resources about MEOX1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the MEOX1 gene or gene products?

  • homeobox protein MOX-1
  • MOX1

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding MEOX1?

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
References (5 links)

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? in the Handbook

No hay comentarios:

Publicar un comentario