| Structural highlights
Disease
RNT2_HUMAN Cystic leukoencephalopathy without megalencephaly. The disease is caused by mutations affecting the gene represented in this entry.
Function
RNT2_HUMAN Has ribonuclease activity, with higher activity at acidic pH. Probably is involved in lysosomal degradation of ribosomal RNA (By similarity). Probably plays a role in cellular RNA catabolism.[1] [2] [3]
See Also
References
- ↑ Campomenosi P, Salis S, Lindqvist C, Mariani D, Nordstrom T, Acquati F, Taramelli R. Characterization of RNASET2, the first human member of the Rh/T2/S family of glycoproteins. Arch Biochem Biophys. 2006 May 15;449(1-2):17-26. Epub 2006 Mar 13. PMID:16620762 doi:http://dx.doi.org/10.1016/j.abb.2006.02.022
- ↑ Henneke M, Diekmann S, Ohlenbusch A, Kaiser J, Engelbrecht V, Kohlschutter A, Kratzner R, Madruga-Garrido M, Mayer M, Opitz L, Rodriguez D, Ruschendorf F, Schumacher J, Thiele H, Thoms S, Steinfeld R, Nurnberg P, Gartner J. RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection. Nat Genet. 2009 Jul;41(7):773-5. doi: 10.1038/ng.398. Epub 2009 Jun 14. PMID:19525954 doi:http://dx.doi.org/10.1038/ng.398
- ↑ Thorn A, Steinfeld R, Ziegenbein M, Grapp M, Hsiao HH, Urlaub H, Sheldrick GM, Gartner J, Kratzner R. Structure and activity of the only human RNase T2. Nucleic Acids Res. 2012 Jun 26. PMID:22735700 doi:10.1093/nar/gks614
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