POMT2
Protein O-manozil-transferaza 2 je enzim koji je kod ljudi kodiran genom POMT2.[1][2][3]
| Protein O-mannosyltransferase 2 | |||||||
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| Spoljašnji ID | GeneCards: [1] | ||||||
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| Vrste | Čovek | Miš | |||||
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| Location (UCSC) | n/a | n/a | |||||
| PubMed search | n/a | n/a | |||||
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Reference
уреди- ^ Fukuda S, Sumii M, Masuda Y, Takahashi M, Koike N, Teishima J, Yasumoto H, Itamoto T, Asahara T, Dohi K, Kamiya K (фебруар 2001). „Murine and human SDF2L1 is an endoplasmic reticulum stress-inducible gene and encodes a new member of the Pmt/rt protein family”. Biochem Biophys Res Commun. 280 (1): 407—14. PMID 11162531. doi:10.1006/bbrc.2000.4111.
- ^ Willer T, Amselgruber W, Deutzmann R, Strahl S (децембар 2002). „Characterization of POMT2, a novel member of the PMT protein O-mannosyltransferase family specifically localized to the acrosome of mammalian spermatids”. Glycobiology. 12 (11): 771—83. PMID 12460945. doi:10.1093/glycob/cwf086
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- ^ „Entrez Gene: POMT2 protein-O-mannosyltransferase 2”.
Literatura
уреди- Bonaldo MF, Lennon G, Soares MB (1997). „Normalization and subtraction: two approaches to facilitate gene discovery”. Genome Res. 6 (9): 791—806. PMID 8889548. doi:10.1101/gr.6.9.791 .
- Strausberg RL; Feingold EA; Grouse LH; et al. (2003). „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. Bibcode:2002PNAS...9916899M. PMC 139241 . PMID 12477932. doi:10.1073/pnas.242603899 .
- Heilig R; Eckenberg R; Petit JL; et al. (2003). „The DNA sequence and analysis of human chromosome 14”. Nature. 421 (6923): 601—7. Bibcode:2003Natur.421..601H. PMID 12508121. doi:10.1038/nature01348 .
- Manya H; Chiba A; Yoshida A; et al. (2004). „Demonstration of mammalian protein O-mannosyltransferase activity: Coexpression of POMT1 and POMT2 required for enzymatic activity”. Proc. Natl. Acad. Sci. U.S.A. 101 (2): 500—5. Bibcode:2004PNAS..101..500M. PMC 327176 . PMID 14699049. doi:10.1073/pnas.0307228101 .
- Ota T; Suzuki Y; Nishikawa T; et al. (2004). „Complete sequencing and characterization of 21,243 full-length human cDNAs”. Nat. Genet. 36 (1): 40—5. PMID 14702039. doi:10.1038/ng1285 .
- 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. PMC 528928 . PMID 15489334. doi:10.1101/gr.2596504.
- van Reeuwijk J; Janssen M; van den Elzen C; et al. (2006). „POMT2 mutations cause
α -dystroglycan hypoglycosylation and Walker-Warburg syndrome”. J. Med. Genet. 42 (12): 907—12. PMC 1735967 . PMID 15894594. doi:10.1136/jmg.2005.031963. - Kimura K; Wakamatsu A; Suzuki Y; et al. (2006). „Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes”. Genome Res. 16 (1): 55—65. PMC 1356129 . PMID 16344560. doi:10.1101/gr.4039406.
- Akasaka-Manya K; Manya H; Nakajima A; et al. (2006). „Physical and functional association of human protein O-mannosyltransferases 1 and 2”. J. Biol. Chem. 281 (28): 19339—45. PMID 16698797. doi:10.1074/jbc.M601091200 .
- Yanagisawa A; Bouchet C; Van den Bergh PY; et al. (2007). „New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation” (PDF). Neurology. 69 (12): 1254—60. PMID 17634419. S2CID 26108950. doi:10.1212/01.wnl.0000268489.60809.c4.
- Biancheri R; Falace A; Tessa A; et al. (2007). „POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes”. Biochem. Biophys. Res. Commun. 363 (4): 1033—7. PMID 17923109. doi:10.1016/j.bbrc.2007.09.066.
Spoljašnje veze
уреди