MNX1

MNX1 (also known as Motor Neuron and Pancreas Homeobox 1) is a gene that encodes a protein playing a crucial role in the development of the pancreas and the motor neurons. Mutations in this gene are associated with several disorders, including Currarino syndrome and congenital hypopituitarism.

Function

The MNX1 gene provides instructions for making a protein that is involved in the development of motor neurons and the pancreas. This protein is a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of particular genes.

Clinical significance

Mutations in the MNX1 gene can lead to several disorders. The most common is Currarino syndrome, a condition characterized by a triad of anomalies: a sacral defect, anorectal malformation, and a presacral mass.

Another disorder associated with mutations in the MNX1 gene is congenital hypopituitarism, a condition that affects the pituitary gland and can lead to growth failure, delayed puberty, and other health problems.

See also

• Gene
• Protein
• Transcription factor
• DNA
• Currarino syndrome
• Congenital hypopituitarism

References

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