TSEN15 is a gene that produces a protein which plays a role in maintaining properly functioning tRNA, a molecule necessary for decoding a messenger RNA sequence into a protein. Proteins in turn are essential for many cellular functions. TSEN15 gene has been demonstrated to have an important role in brain development. Mutations in TSEN15 cause pontocerebellar hypoplasia type 2F and result in the clinical manifestations described in the Clinical Characteristics Section.
TSEN15