Exosome_component_3

Exosome component 3

Exosome component 3

Protein-coding gene in the species Homo sapiens


Exosome component 3, also known as EXOSC3, is a human gene, which is part of the exosome complex.[5]

Quick Facts EXOSC3, Available structures ...

Clinical significance

Mutations in EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration.[6]


References

  1. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  2. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. Wan J, Yourshaw M, Mamsa H, Rudnik-Schöneborn S, Menezes MP, Hong JE, Leong DW, Senderek J, Salman MS, Chitayat D, Seeman P, von Moers A, Graul-Neumann L, Kornberg AJ, Castro-Gago M, Sobrido MJ, Sanefuji M, Shieh PB, Salamon N, Kim RC, Vinters HV, Chen Z, Zerres K, Ryan MM, Nelson SF, Jen JC (2012). "Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration". Nat. Genet. 44 (6): 704–8. doi:10.1038/ng.2254. PMC 3366034. PMID 22544365.

Further reading

  • Overview of all the structural information available in the PDB for UniProt: Q9NQT5 (Human Exosome complex component RRP40) at the PDBe-KB.




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