EXOSC8

Chr 13AR

exosome component 8

Also known as: CIP3, EAP2, OIP2, PCH1C, RRP43, Rrp43p, bA421P11.3, p9

NCBI Gene: 11340 ENSG00000120699 UniProt: Q96B26 OMIM: 606019

The protein is a non-catalytic component of the RNA exosome complex that processes and degrades various RNA species in both the nucleus and cytoplasm, including mRNAs containing AU-rich elements. Mutations cause pontocerebellar hypoplasia type 1C, a severe early-onset neurodevelopmental disorder primarily affecting the brainstem and cerebellum, inherited in an autosomal recessive pattern. The gene is highly constrained against loss-of-function variation (pLI nearly 1), indicating that heterozygous loss-of-function variants are likely benign in the general population.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a 3'-5' exoribonuclease that specifically interacts with mRNAs containing AU-rich elements. The encoded protein is part of the exosome complex that is important for the degradation of numerous RNA species. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Mar 2009]

GeneReviews OMIM ResearchGenerating clinical summary…

LOFmechanismARLOEUF 1.691 OMIM phenotype

Clinical Summary— EXOSC8

⚡

Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Explore recent and relevant literature in Research Assistant →

📖

GeneReview available — EXOSC8

Authoritative clinical overview · Recommended first read

Open GeneReview ↗