The CNOT2 protein serves as a structural component within the "carbon catabolite repressor 4 negative on TATA-less" (CCR4-NOT) complex. This complex consisting of 11 subunits plays a crucial role in regulating gene expression and it is involved in various cellular processes. One of its important function is to initiate mRNA degradation through the process of deadenylation, which involves removing the poly(A) tail from the mRNA molecule. The vast majority of variants identified in CNOT2-related disorder patients are truncating variants or microdeletion involving the CNOT2 gene, which indicates a loss-of-function or haploinsufficiency mechanism. Molecular genetic testing by next-generation sequencing will allow the detection of single nucleotide variants in CNOT2, as well as some copy number variations in this genomic region. Chromosomal microarray may also be considered to identify copy number variations.
CNOT2