The CNOT2 protein plays a crucial role in controlling how our genes are expressed and it is hence important in many cellular processes. When the body doesn't produce enough CNOT2 protein, it leads to a developmental disorder sometimes referred to as “Intellectual Developmental disorder with Nasal speech, Dysmorphic Facies, and variable Skeletal anomalies”. This occurs in individuals who are born with a specific error, known as a variant or mutation, in one of the two copies of the gene that gives instructions for making the CNOT2 protein. Genetic tests can be performed to examine this gene, called CNOT2, and help doctors confirm the diagnosis of CNOT2-related disorder.
CNOT2