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RNASEH2C

From Wikipedia, the free encyclopedia
RNASEH2C
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesRNASEH2C, AGS3, AYP1, ribonuclease H2 subunit C
External IDsOMIM: 610330; MGI: 1915459; HomoloGene: 32666; GeneCards: RNASEH2C; OMA:RNASEH2C - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_032193

NM_026616

RefSeq (protein)

NP_115569

NP_080892

Location (UCSC)Chr 11: 65.71 – 65.72 MbChr 19: 5.65 – 5.66 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Ribonuclease H2 subunit C is a protein that in humans is encoded by the RNASEH2C gene. [5] RNase H2 is composed of a single catalytic subunit (A) and two non-catalytic subunits (B and C), and degrades the RNA of RNA:DNA hybrids.

Mutations in this gene are a cause of Aicardi-Goutieres syndrome type 3 (AGS3).[5][6]

Function

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This gene encodes a ribonuclease H subunit that can cleave ribonucleotides from RNA:DNA duplexes. Mutations in this gene cause Aicardi-Goutieres syndrome-3, a disease that causes severe neurologic dysfunction. A pseudogene for this gene has been identified on chromosome Y, near the sex determining region Y (SRY) gene.

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000172922Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024925Ensembl, 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. ^ a b "Entrez Gene: Ribonuclease H2 subunit C". Retrieved 2017-02-27.
  6. ^ Crow YJ, Leitch A, Hayward BE, Garner A, Parmar R, Griffith E, et al. (Aug 2006). "Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection". Nature Genetics. 38 (8): 910–6. doi:10.1038/ng1842. PMID 16845400. S2CID 8076225.

Further reading

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  • Overview of all the structural information available in the PDB for UniProt: Q8TDP1 (Human Ribonuclease H2 subunit C (RNASEH2C)) at the PDBe-KB.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.