EXOSC3 exosome component 3
Gene ID: 51010, updated on 3-Nov-2024Gene type: protein coding
Also known as: p10; PCH1B; RRP40; Rrp40p; CGI-102; hRrp-40; bA3J10.7
- See all available tests in GTR for this gene
- Go to complete Gene record for EXOSC3
- Go to Variation Viewer for EXOSC3 variants
Summary
This gene encodes a non-catalytic component of the human exosome, a complex with 3'-5' exoribonuclease activity that plays a role in numerous RNA processing and degradation activities. Related pseudogenes of this gene are found on chromosome 19 and 21. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2012]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Pontocerebellar hypoplasia type 1B | See labs |
Genomic context
- Location:
- 9p13.2
- Sequence:
- Chromosome: 9; NC_000009.12 (37779714..37785092, complement)
- Total number of exons:
- 4
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for EXOSC3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- EXOSC3 @ LOVD
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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