SMC3
SMC3 is a gene that encodes a protein in humans. This protein is a part of the cohesin complex, which is crucial for chromosome segregation during cell division and DNA repair. Mutations in this gene have been associated with Cornelia de Lange syndrome, a developmental disorder.
Function[edit | edit source]
The SMC3 gene provides instructions for making a protein that is a part of a group of proteins known as the cohesin complex. The cohesin complex holds sister chromatids together, which is essential for proper chromosome segregation during cell division. It also plays a role in DNA repair and gene regulation.
Clinical significance[edit | edit source]
Mutations in the SMC3 gene have been associated with Cornelia de Lange syndrome, a developmental disorder that affects many parts of the body. The features of this disorder vary widely among affected individuals and can include slow growth, intellectual disability, skeletal abnormalities, and distinctive facial features.
See also[edit | edit source]
References[edit | edit source]
SMC3 Resources | ||
---|---|---|
|
|
Translate to: East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski
Navigation: Wellness - Encyclopedia - Health topics - Disease Index - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro) available.
Advertise on WikiMD
WikiMD is not a substitute for professional medical advice. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.Contributors: Prab R. Tumpati, MD