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]
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Contributors: Prab R. Tumpati, MD
