Biology:POMT2
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Protein O-mannosyl-transferase 2 is an enzyme that in humans is encoded by the POMT2 gene.[1][2][3]
Function
POMT2 encodes an integral membrane protein of the endoplasmic reticulum (ER) that shares significant sequence similarity with a family of protein O-mannosyltransferases of S. cerevisiae. For additional background information, see POMT1 (MIM 607423).[supplied by OMIM][3]
References
- ↑ "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. Feb 2001. doi:10.1006/bbrc.2000.4111. PMID 11162531.
- ↑ "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. Dec 2002. doi:10.1093/glycob/cwf086. PMID 12460945.
- ↑ 3.0 3.1 "Entrez Gene: POMT2 protein-O-mannosyltransferase 2". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=29954.
Further reading
- "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. 1997. doi:10.1101/gr.6.9.791. PMID 8889548.
- 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. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- Heilig R; Eckenberg R; Petit JL et al. (2003). "The DNA sequence and analysis of human chromosome 14". Nature 421 (6923): 601–7. doi:10.1038/nature01348. PMID 12508121. Bibcode: 2003Natur.421..601H.
- 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. doi:10.1073/pnas.0307228101. PMID 14699049. Bibcode: 2004PNAS..101..500M.
- 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. doi:10.1038/ng1285. PMID 14702039.
- 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.
- 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. doi:10.1136/jmg.2005.031963. PMID 15894594.
- 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. doi:10.1101/gr.4039406. PMID 16344560.
- 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. doi:10.1074/jbc.M601091200. PMID 16698797.
- Yanagisawa A; Bouchet C; Van den Bergh PY et al. (2007). "New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation". Neurology 69 (12): 1254–60. doi:10.1212/01.wnl.0000268489.60809.c4. PMID 17634419. https://www.hal.inserm.fr/inserm-00201941/file/Yanagisawa%20et%20al.%20Neurology%202007.pdf.
- 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. doi:10.1016/j.bbrc.2007.09.066. PMID 17923109.
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