MSX1

MSX1 is a protein that in humans is encoded by the MSX1 gene. This gene is a member of the muscle segment homeobox gene family and functions in the development of several body structures, including the nervous system, limbs, and heart.

Function[edit | edit source]

The MSX1 protein is a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of certain genes. Researchers believe that the MSX1 protein plays a critical role in the formation of tissues and organs during embryonic development.

Clinical significance[edit | edit source]

Mutations in the MSX1 gene have been associated with several conditions, including Witkop syndrome, Wolf-Hirschhorn syndrome, and nonsyndromic cleft lip with or without cleft palate (NSCL/P).

Witkop syndrome[edit | edit source]

Witkop syndrome, also known as tooth and nail syndrome, is a condition characterized by nail dysplasia and the absence of several teeth at birth. Mutations in the MSX1 gene prevent the production of the MSX1 protein, which disrupts normal tooth and nail development.

Wolf-Hirschhorn syndrome[edit | edit source]

Wolf-Hirschhorn syndrome is a condition that affects many parts of the body and is characterized by a distinctive facial appearance, delayed growth and development, intellectual disability, and seizures. A deletion of genetic material in the region of the MSX1 gene is thought to contribute to the characteristic features of this disorder.

Nonsyndromic cleft lip with or without cleft palate[edit | edit source]

Nonsyndromic cleft lip with or without cleft palate is a condition in which a person has a cleft lip, a cleft palate, or both without any other abnormalities. Mutations in the MSX1 gene are one of the genetic causes of this condition.