EXOSC8
Exosome Component 8
Gene Information Card
| Symbol | EXOSC8 |
|---|---|
| Full Name | Exosome Component 8 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q13.3 |
| NCBI Gene ID | 11340 ncbi.nlm.nih.gov/gene/11340 |
| Ensembl ID | ENSG00000120688 |
| UniProt ID | Q96B26 |
| OMIM ID | 606019 |
| HGNC ID | 17068 |
| Aliases | RRP43, p9, RRP45B, hRrp43p, EXOSC8 |
Description
EXOSC8 encodes a component of the RNA exosome complex, a multi-protein complex responsible for 3'->5' exoribonucleolytic degradation and processing of various RNA substrates. This subunit is essential for exosome stability and function, particularly in RNA surveillance and turnover. Mutations in EXOSC8 are associated with pontocerebellar hypoplasia type 1C (PCH1C), a neurodegenerative disorder characterized by cerebellar atrophy and motor neuron degeneration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pontocerebellar hypoplasia type 1C | Loss-of-function mutations impair RNA exosome activity, leading to defective RNA processing and neuronal cell death | ClinVar, OMIM |
| Spinal muscular atrophy with pontocerebellar hypoplasia | Compound heterozygous mutations disrupt exosome function, causing motor neuron degeneration | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 7.1 | Low |
| Kidney | 9.2 | Low |
| Testis | 15.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.2 | Moderate expression |
| HeLa | 11.8 | Moderate expression |
| K562 | 9.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.395A>G (p.Asn132Ser) | Missense | Rare | Loss of exosome function, associated with PCH1C |
| c.622C>T (p.Arg208Trp) | Missense | Rare | Impaired RNA binding, pathogenic |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations reduce exosome catalytic activity or stability, leading to RNA accumulation and neurodegeneration.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • 3'-5'-exoribonuclease activity | • RNA binding |
| • exosome (RNase complex) | • nuclear exosome (RNase complex) |
| • cytoplasmic exosome (RNase complex) | • RNA processing |
| • rRNA processing | • mRNA catabolic process |
Pathways
• RNA degradation
• rRNA processing in the nucleus and cytosol
• mRNA surveillance pathway
Protein Summary
EXOSC8 is a 275-amino acid protein that forms part of the exosome core complex. It contains an RNase PH domain and is essential for exosome structural integrity and catalytic activity. The protein localizes to both the nucleus and cytoplasm, participating in degradation of defective RNAs and processing of stable RNAs such as rRNA and snRNA.
Related Services
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|---|---|---|---|---|
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