U2CC7

U2CC7 is a protein-coding gene located on the long arm of chromosome 2 (2q37.1) in humans. The gene spans approximately 10.5 kilobases and contains 10 exons. It is expressed in various tissues, including the brain, heart, and skeletal muscle, and its exact function is not fully understood. U2CC7 is a member of the U2 small nuclear ribonucleoprotein (snRNP) complex, which plays a crucial role in the splicing of pre-mRNA. The U2 snRNP complex is composed of several proteins, including U2AF1, U2AF2, U2AF3, and U2CC7. U2CC7 is thought to be involved in the assembly and stability of the U2 snRNP complex, as well as in the regulation of alternative splicing. Mutations in the U2CC7 gene have been associated with several diseases, including intellectual disability, autism spectrum disorder, and epilepsy. However, the specific role of U2CC7 in these diseases is not yet fully understood. Further research is needed to elucidate the precise function of U2CC7 and its role in human disease.