CNOT3
Description:
cnot3, also known as chromosome 16 open reading frame 135, is a protein-coding gene located on human chromosome 16. It encodes a protein involved in several cellular processes, including RNA metabolism, cell cycle regulation, and DNA damage response.
Associated Diseases:
Mutations in the cnot3 gene have been linked to several diseases, including:
- Congenital heart defects: Mutations in cnot3 have been associated with an increased risk of congenital heart defects, such as atrial septal defects and ventricular septal defects.
- Intellectual disability: Mutations in cnot3 have also been linked to intellectual disability, developmental delay, and autism spectrum disorder.
- Cancer: Reduced expression of cnot3 has been observed in some types of cancer, such as lung cancer and breast cancer.
Did you Know ?
- Mutations in the cnot3 gene are estimated to occur in approximately 1 in 50,000 individuals.
