EXOSC9

Chr 4AR

exosome component 9

Also known as: PCH1D, PM/Scl-75, PMSCL1, RRP45, Rrp45p, p5, p6

NCBI Gene: 5393 ENSG00000123737 UniProt: Q06265 OMIM: 606180

This gene encodes a non-catalytic component of the RNA exosome complex, which degrades and processes RNA in both the nucleus and cytoplasm, including mRNA turnover, ribosomal RNA maturation, and elimination of aberrant transcripts. Mutations cause pontocerebellar hypoplasia type 1D, a severe early-onset neurodevelopmental disorder affecting the brainstem and cerebellum, inherited in an autosomal recessive pattern. The gene is extremely intolerant to loss-of-function variants, indicating that proper RNA processing is essential for normal cellular function.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a component of the human exosome, a exoribonuclease complex which processes and degrades RNA in the nucleus and cytoplasm. This component may play a role in mRNA degradation and the polymyositis/scleroderma autoantigen complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Pontocerebellar hypoplasia, type 1DMIM #618065

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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