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Rnaseh2a

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Title: Rnaseh2a  
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Rnaseh2a

Ribonuclease H2, subunit A
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols  ; AGS4; JUNB; RNASEHI; RNHIA; RNHL
External IDs GeneCards:
EC number
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)
PubMed search

Ribonuclease H2 subunit A, also known as RNase H2 subunit A, is an enzyme that in humans is encoded by the RNASEH2A gene.[1]

Contents

  • Function 1
  • Clinical significance 2
  • References 3
  • Further reading 4
  • External links 5

Function

The protein encoded by this gene is a component of the heterotrimeric type II ribonuclease H enzyme (RNAseH2). RNAseH2 is the major source of ribonuclease H activity in mammalian cells and endonucleolytically cleaves ribonucleotides. It is predicted to remove Okazaki fragment RNA primers during lagging strand DNA synthesis and to excise single ribonucleotides from DNA-DNA duplexes.[1]

Clinical significance

Mutations in this gene cause Aicardi-Goutieres syndrome (AGS), an autosomal recessive neurological disorder characterized by progressive microcephaly and psychomotor retardation, intracranial calcifications, elevated levels of interferon-alpha and white blood cells in the cerebrospinal fluid.[1]

References

  1. ^ a b c "Entrez Gene: ribonuclease H2". 

Further reading

  • Crow YJ, Leitch A, Hayward BE, et al. (2006). "Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.". Nat. Genet. 38 (8): 910–6.  
  • Chon H, Vassilev A, DePamphilis ML, et al. (2009). "Contributions of the two accessory subunits, RNASEH2B and RNASEH2C, to the activity and properties of the human RNase H2 complex". Nucleic Acids Res. 37 (1): 96–110.  
  • Flanagan JM, Funes JM, Henderson S, et al. (2009). "Genomics screen in transformed stem cells reveals RNASEH2A, PPAP2C, and ADARB1 as putative anticancer drug targets". Mol. Cancer Ther. 8 (1): 249–60.  
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7.  
  • Bonaldo MF, Lennon G, Soares MB (1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806.  
  • Rice G, Patrick T, Parmar R, et al. (2007). "Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome". Am. J. Hum. Genet. 81 (4): 713–25.  
  • Frank P, Braunshofer-Reiter C, Wintersberger U, et al. (1998). "Cloning of the cDNA encoding the large subunit of human RNase HI, a homologue of the prokaryotic RNase HII". Proc. Natl. Acad. Sci. U.S.A. 95 (22): 12872–7.  
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903.  
  • Ganesh SK, Zakai NA, van Rooij FJ, et al. (2009). "Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium". Nat. Genet. 41 (11): 1191–8.  

External links

  • GeneReviews/NCBI/NIH/UW entry on Aicardi-Goutières Syndrome
  • OMIM entries on Aicardi-Goutieres syndrome
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