Exosome component 5, also known as EXOSC5, is a human gene, which is part of the exosome complex.[5]

EXOSC5
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesEXOSC5, RRP41B, RRP46, Rrp46p, hRrp46p, p12B, Exosome component 5, CABAC
External IDsOMIM: 606492; MGI: 107889; HomoloGene: 5981; GeneCards: EXOSC5; OMA:EXOSC5 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_020158

NM_138586

RefSeq (protein)

NP_064543

NP_613052

Location (UCSC)Chr 19: 41.39 – 41.4 MbChr 7: 25.36 – 25.37 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Biallelic pathogenic variation in EXOSC5 causes autosomal recessive cerebellar ataxia, brain abnormalities, and cardiac conduction defects (CABAC, MIM 619576).[6][7][8][9] Individuals with CABAC often have delayed developmental milestones, intellectual disability, cerebellar ataxia, hypotonia, dysarthria, and dysmorphic facies. Cardiac abnormalities including conduction defects, right bundle branch block, sinus node dysfunction, intraventricular conduction delay, atrioventricular block, and/or ventricular tachycardia. Cardiac pacemakers and defibrillators have been needed, and sudden cardiac death has been reported.[6][7][8][9]

Interactions

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Exosome component 5 has been shown to interact with:

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000077348Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000061286Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: EXOSC5 exosome component 5".
  6. ^ a b "Entry - #619576 - CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC - OMIM". omim.org. Retrieved 2023-01-23.
  7. ^ a b Beheshtian M, Fattahi Z, Fadaee M, Vazehan R, Jamali P, Parsimehr E, et al. (June 2019). "Identification of disease-causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families". Clinical Genetics. 95 (6): 718–725. doi:10.1111/cge.13549. PMID 30950035. S2CID 96434991.
  8. ^ a b Calame DG, Herman I, Fatih JM, Du H, Akay G, Jhangiani SN, et al. (August 2021). "Risk of sudden cardiac death in EXOSC5-related disease". American Journal of Medical Genetics. Part A. 185 (8): 2532–2540. doi:10.1002/ajmg.a.62352. PMC 8382094. PMID 34089229.
  9. ^ a b Slavotinek A, Misceo D, Htun S, Mathisen L, Frengen E, Foreman M, et al. (August 2020). "Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness". Human Molecular Genetics. 29 (13): 2218–2239. doi:10.1093/hmg/ddaa108. PMC 7399534. PMID 32504085.
  10. ^ a b Raijmakers R, Egberts WV, van Venrooij WJ, Pruijn GJ (November 2002). "Protein-protein interactions between human exosome components support the assembly of RNase PH-type subunits into a six-membered PNPase-like ring". Journal of Molecular Biology. 323 (4): 653–663. doi:10.1016/s0022-2836(02)00947-6. hdl:2066/186665. PMID 12419256.
  11. ^ Raijmakers R, Noordman YE, van Venrooij WJ, Pruijn GJ (January 2002). "Protein-protein interactions of hCsl4p with other human exosome subunits". Journal of Molecular Biology. 315 (4): 809–818. doi:10.1006/jmbi.2001.5265. hdl:2066/261980. PMID 11812149.

Further reading

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