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.
See also[edit | edit source]
- Homeobox
- Transcription factor
- Witkop syndrome
- Wolf-Hirschhorn syndrome
- Nonsyndromic cleft lip with or without cleft palate
References[edit | edit source]
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
|
WikiMD's Wellness Encyclopedia |
| Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates, categories Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD
