|Other Names||H/ACA ribonucleoprotein complex subunit 2, Nucleolar protein family A member 2, snoRNP protein NHP2, NHP2, NOLA2|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||Required for ribosome biogenesis and telomere maintenance. Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine ("psi") residues, which may serve to stabilize the conformation of rRNAs. May also be required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme.|
|Cellular Location||Nucleus, nucleolus. Nucleus, Cajal body. Note=Also localized to Cajal bodies (coiled bodies)|
|Tissue Location||Expressed in brain, colon, heart, kidney, ovary, pancreas, placenta, prostate, skeletal muscle, small intestine, spleen, testis and thymus. Also expressed at lower levels in the liver.|
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This gene is a member of the H/ACA snoRNPs (smallnucleolar ribonucleoproteins) gene family. snoRNPs are involved invarious aspects of rRNA processing and modification and have beenclassified into two families: C/D and H/ACA. The H/ACA snoRNPs alsoinclude the DKC1, NOLA1 and NOLA3 proteins. These four H/ACA snoRNPproteins localize to the dense fibrillar components of nucleoli andto coiled (Cajal) bodies in the nucleus. Both 18S rRNA productionand rRNA pseudouridylation are impaired if any one of the fourproteins is depleted. The four H/ACA snoRNP proteins are alsocomponents of the telomerase complex. This gene encodes a proteinrelated to Saccharomyces cerevisiae Nhp2p. Alternative splicingresults in multiple transcript variants.
Trahan, C., et al. Hum. Mol. Genet. 19(5):825-836(2010)Satoh, J., et al. Neuropathol. Appl. Neurobiol. 35(1):16-35(2009)Vulliamy, T., et al. Proc. Natl. Acad. Sci. U.S.A. 105(23):8073-8078(2008)Yamaguchi, H., et al. N. Engl. J. Med. 352(14):1413-1424(2005)Slizhikova, D.K., et al. Bioorg. Khim. 31(2):195-199(2005)
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