Exosome component 3 [SEP] found in taxon
Exosome component 3
Exosome component 3, also known as EXOSC3, is a human gene, which is part of the exosome complex.
Clinical significance.
Mutations in EXOSC3 cause and spinal motor neuron degeneration.
of autoantibodies in patients with specific autoimmune diseases (especially the PM/Scl overlap syndrome) and some antimetabolic chemotherapies for cancer function by blocking the activity of the exosome. In addition, mutations in exosome component 3 cause pontocerebellar hypoplasia and spinal motor neuron disease.
Discovery.
The exosome was first discovered as an RNase in 1997 in the budding yeast "Saccharomyces cerevisiae", an often-used model organism. Not long after, in 1999, it was realized that the exosome was in fact the yeast equivalent of an