protein O-mannosyltransferase 2
Zuletzt aktualisiert 19 Apr 2023
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Der POMT2 gene provides instructions for making one piece of the protein O-mannosyltransferase (POMT) enzyme complex. The other piece is produced from the POMT1 gene. This enzyme complex is present in many different tissues in the body but is particularly abundant in the muscles used for movement (skeletal muscles), fetal brain, and testes.
Normal function
Der POMT2 gene provides instructions for making one piece of the protein O-mannosyltransferase (POMT) enzyme complex. The other piece is produced from the POMT1 gene. This enzyme complex is present in many different tissues in the body but is particularly abundant in the muscles used for movement (skeletal muscles), fetal brain, and testes.
The POMT complex helps modify a protein called alpha (α)-dystroglycan. Specifically, this complex adds a sugar molecule called mannose to α-dystroglycan through a process called glycosylation. Glycosylation is critical for the normal function of α-dystroglycan.
The α-dystroglycan protein helps anchor the structural framework inside each cell (cytoskeleton) to the lattice of proteins and other molecules outside the cell (extracellular matrix). In skeletal muscles, glycosylated α-dystroglycan helps stabilize and protect muscle fibers. In the brain, it helps direct the movement (migration) of nerve cells (neurons) during early development.
Conditions referring to this gene or chromosome
Other names
dolichyl-phosphate-mannose--protein mannosyltransferase 2
LGMD2N
MDDGA2
MDDGB2
MDDGC2
POMT2_HUMAN
protein O-mannosyl-transferase 2
protein-O-mannosyltransferase 2
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Weiterführende Lektüre und Referenzen
- protein O-mannosyltransferase 2; MedlinePlus, National Library of Medicine.
- Akasaka-Manya K, Manya H, Nakajima A, Kawakita M, Endo T. Physical and functional association of human protein O-mannosyltransferases 1 and 2. J Biol Chem. 2006 Jul 14;281(28):19339-45. doi: 10.1074/jbc.M601091200. Epub 2006 May 12.
- Manya H, Chiba A, Yoshida A, Wang X, Chiba Y, Jigami Y, Margolis RU, Endo T. Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity. Proc Natl Acad Sci U S A. 2004 Jan 13;101(2):500-5. doi: 10.1073/pnas.0307228101. Epub 2003 Dec 29.
- Saredi S, Gibertini S, Ardissone A, Fusco I, Zanotti S, Blasevich F, Morandi L, Moroni I, Mora M. A fourth case of POMT2-related limb girdle muscle dystrophy with mild reduction of alpha-dystroglycan glycosylation. Eur J Paediatr Neurol. 2014 May;18(3):404-8. doi: 10.1016/j.ejpn.2013.10.005. Epub 2013 Oct 27.
- van Reeuwijk J, Janssen M, van den Elzen C, Beltran-Valero de Bernabe D, Sabatelli P, Merlini L, Boon M, Scheffer H, Brockington M, Muntoni F, Huynen MA, Verrips A, Walsh CA, Barth PG, Brunner HG, van Bokhoven H. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. J Med Genet. 2005 Dec;42(12):907-12. doi: 10.1136/jmg.2005.031963. Epub 2005 May 13.
- Yanagisawa A, Bouchet C, Quijano-Roy S, Vuillaumier-Barrot S, Clarke N, Odent S, Rodriguez D, Romero NB, Osawa M, Endo T, Taratuto AL, Seta N, Guicheney P. POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation. Eur J Med Genet. 2009 Jul-Aug;52(4):201-6. doi: 10.1016/j.ejmg.2008.12.004. Epub 2008 Dec 27.
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19 Apr 2023 | Neueste Version
1 Jan 2017 | Ursprünglich veröffentlicht
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