EXOSC4

Chr 8

exosome component 4

Also known as: RRP41, RRP41A, Rrp41p, SKI6, Ski6p, hRrp41p, p12A

NCBI Gene: 54512 ENSG00000178896 UniProt: Q9NPD3

The EXOSC4 protein is a non-catalytic component of the RNA exosome complex that processes and degrades various cellular RNAs, including rRNA maturation, mRNA turnover, and elimination of aberrant transcripts. Mutations in EXOSC4 cause autosomal recessive short stature, hearing loss, retinitis pigmentosa, and distinctive facies (SHRF) syndrome, affecting growth, sensory organs, and development. This gene shows relatively low constraint to loss-of-function variation, suggesting the recessive inheritance pattern aligns with its tolerance profile.

ResearchSummary from RefSeq, UniProt

Enables mRNA 3'-UTR AU-rich region binding activity. Involved in several processes, including DNA deamination; maturation of 5.8S rRNA; and nuclear-transcribed mRNA catabolic process. Acts upstream of or within defense response to virus. Located in cytosol; euchromatin; and nuclear lumen. Part of exosome (RNase complex). [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.98

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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