Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 is an enzyme that in humans is encoded by the POMGNT1gene.[5][6]
Function
The product of the POMGNT1 gene, protein O-mannose beta-1,2-N-acetylglucosaminyltransferase, participates in O-mannosyl glycan synthesis. A mutation in this gene is the cause of muscle-eye-brain disease (MIM 253280).[7]
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID8125298.
Suzuki Y; Yoshitomo-Nakagawa K; Maruyama K; et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID9373149. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
Yoshida A; Kobayashi K; Manya H; et al. (2002). "Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1". Dev. Cell. 1 (5): 717–24. doi:10.1016/S1534-5807(01)00070-3. PMID11709191. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
Triki C; Louhichi N; Méziou M; et al. (2003). "Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the LAMA2, FCMD, MEB and CMD1B loci, in three Tunisian patients". Neuromuscul. Disord. 13 (1): 4–12. doi:10.1016/S0960-8966(02)00188-8. PMID12467726. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
Gregory SG; Barlow KF; McLay KE; et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. doi:10.1038/nature04727. PMID16710414. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
Abbott KL, Troupe K, Lee I, Pierce M (2006). "Integrin-dependent neuroblastoma cell adhesion and migration on laminin is regulated by expression levels of two enzymes in the O-mannosyl-linked glycosylation pathway, PomGnT1 and GnT-Vb". Exp. Cell Res. 312 (15): 2837–50. doi:10.1016/j.yexcr.2006.05.022. PMID16857188.