RecName: Full=Exosome complex component RRP43; AltName: Full=Exosome c - Protein

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A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C. [J Hum Genet. 2024]
A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C.
Zaki MS, Abdel-Ghafar SF, Abdel-Hamid MS. J Hum Genet. 2024 Feb; 69(2):79-84. Epub 2023 Nov 29.
EXOSC8 promotes colorectal cancer tumorigenesis via regulating ribosome biogenesis-related processes. [Oncogene. 2022]
EXOSC8 promotes colorectal cancer tumorigenesis via regulating ribosome biogenesis-related processes.
Cui K, Gong L, Zhang H, Chen Y, Liu B, Gong Z, Li J, Wang Y, Sun S, Li Y, et al. Oncogene. 2022 Dec; 41(50):5397-5410. Epub 2022 Nov 8.
Comprehensive characterization of the rRNA metabolism-related genes in human cancer. [Oncogene. 2020]
Comprehensive characterization of the rRNA metabolism-related genes in human cancer.
Cui K, Liu C, Li X, Zhang Q, Li Y. Oncogene. 2020 Jan; 39(4):786-800. Epub 2019 Sep 23.

RefSeq genomic sequence
See the genomic reference sequence for the EXOSC8 gene (NG_042275.1).
RefSeq protein
See the reference protein sequence for exosome complex component RRP43 (NP_852480.1).

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Related Structures (List)
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Q96B26 [Domain Mapping of Disease Mut...]
Q96B26
Domain Mapping of Disease Mutations
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
Reactome [Reactome]
Reactome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome
Evolutionary Trace of Functional Site [Evolutionary Trace of Functio...]
Evolutionary Trace of Functional Site

RecName: Full=Exosome complex component RRP43; AltName: Full=Exosome component 8...
RecName: Full=Exosome complex component RRP43; AltName: Full=Exosome component 8; AltName: Full=Opa-interacting protein 2; Short=OIP-2; AltName: Full=Ribosomal RNA-processing protein 43; AltName: Full=p9
gi|21759409|sp|Q96B26.1|EXOS8_HUMAN

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