EXOSC3 Human

EXOSC3 is a single, non-glycosylated polypeptide chain containing 298 amino acids, with a molecular mass of approximately 32.0 kDa . The recombinant form of EXOSC3 is typically produced in Escherichia coli and is fused to a 23 amino acid His-tag at the N-terminus for purification purposes .

The primary role of EXOSC3 within the exosome complex is to assist in the processing and degradation of various RNA molecules. This activity is essential for the normal functioning of cells, as it ensures the appropriate processing and breakdown of RNA molecules when they are no longer needed . EXOSC3 is particularly important for the degradation of histone mRNA, which is a critical process during cell division .

EXOSC3 is necessary for the normal development and growth of certain areas of the brain, particularly the cerebellum, which coordinates movement. It is also vital for the survival of specialized nerve cells in the spinal cord called motor neurons, which play an essential role in muscle movement .

Mutations in the EXOSC3 gene have been linked to a disorder of brain development known as pontocerebellar hypoplasia type 1B (PCH1B). This condition is characterized by delayed development, microcephaly (an unusually small head size), intellectual disability, and problems with muscle movement due to the loss of motor neurons in the spinal cord . The most common mutation involves the replacement of the amino acid aspartic acid with alanine at position 132 (Asp132Ala or D132A), leading to a protein with reduced or no function .

Recombinant EXOSC3 is produced in Escherichia coli and is available as a sterile, filtered, colorless solution. It is formulated in a buffer containing 20 mM Tris-HCl (pH 7.5), 0.15 M NaCl, 30% glycerol, and 1 mM DTT . For long-term storage, it is recommended to store the protein at -20°C with a carrier protein to avoid multiple freeze-thaw cycles .