RNASEH2A

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Ribonukleaza H2, podjedinica A
Dostupne strukture
3P56, 3PUF
Identifikatori
Simboli RNASEH2A; AGS4; JUNB; RNASEHI; RNHIA; RNHL
Vanjski ID OMIM606034 MGI1916974 HomoloGene4664 GeneCards: RNASEH2A Gene
EC broj 3.1.26.4
Ortolozi
Vrsta Čovek Miš
Entrez 10535 69724
Ensembl ENSG00000104889 ENSMUSG00000052926
UniProt O75792 Q9CWY8
Ref. Sekv. (iRNK) NM_006397 NM_027187
Ref. Sekv. (protein) NP_006388 NP_081463
Lokacija (UCSC) Chr 19:
12.92 - 12.92 Mb
Chr 8:
84.96 - 84.97 Mb
PubMed pretraga [1] [2]

Podjedinica A ribonukleaze H2, takođe poznata kao podjedinica A RNaze H2, je enzim koji je kod ljudi kodiran RNASEH2A genom.[1]

Funkcija[uredi - уреди]

Protein kodiran ovim genom je komponenta heterotrimerne ribonukleaze H tipa II (RNAseH2). RNAseH2 je glavni izvor ribonukleazne H aktivnosti u ćelijama sisara. Ona endonukleolitički preseca ribonukleotide. Smatra se da uklanja Okazakijev fragment RNK prajmera tokom sinteze zaostajućeg lanca DNK i da iseca pojedinačne ribonukleotide iz DNK-DNK dupleksa.[1]

Klinički značaj[uredi - уреди]

Mutacije ovog gena uzrokuju Aicardi–Goutières sindrom (AGS), autozomalno recesivni neurološki poremećaj karakterisan progresivnom mikrocefalijom i psihomotornom retardacijom, intrakranijalnom kalcifikacijom, povišenim nivoima interferona alfa i belih krvni zrnca u cerebrospinalnom fluidu.[1]

Reference[uredi - уреди]

Literatura[uredi - уреди]

  • 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. DOI:10.1038/ng1842. PMID 16845400. 
  • 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. DOI:10.1093/nar/gkn913. PMID 19015152. 
  • 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. DOI:10.1158/1535-7163.MCT-08-0636. PMID 19139135. 
  • 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. DOI:10.1101/gr.2596504. PMID 15489334. 
  • Bonaldo MF, Lennon G, Soares MB (1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. DOI:10.1101/gr.6.9.791. PMID 8889548. 
  • 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. DOI:10.1086/521373. PMID 17846997. 
  • 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. DOI:10.1073/pnas.95.22.12872. PMID 9789007. 
  • 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. DOI:10.1073/pnas.242603899. PMID 12477932. 
  • 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. DOI:10.1038/ng.466. PMID 19862010. 

Vanjske veze[uredi - уреди]