EXOSC10

Chr 1

exosome component 10

Also known as: PM-Scl, PM/Scl-100, PMSCL, PMSCL2, RRP6, Rrp6p, p2, p3

NCBI Gene: 5394 ENSG00000171824 UniProt: Q01780 OMIM: 605960

The EXOSC10 protein is the catalytic component of the RNA exosome complex, which performs 3' to 5' RNA degradation and is essential for ribosomal RNA processing, mRNA turnover, and RNA surveillance. Mutations cause autosomal recessive pontocerebellar hypoplasia with microcephaly, developmental delay, and progressive neurodegeneration typically manifesting in infancy. This gene shows extreme intolerance to loss-of-function variants, reflecting its essential role in RNA metabolism and cellular function.

OMIM ResearchSummary from RefSeq, UniProt

Enables 3'-5'-RNA exonuclease activity and telomerase RNA binding activity. Involved in several processes, including RNA catabolic process; negative regulation of telomere maintenance via telomerase; and ribosome biogenesis. Located in cytosol; euchromatin; and nuclear lumen. Part of nuclear exosome (RNase complex) and small-subunit processome. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.74

LOEUF

Mechanism· predicted