Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2
Wells L. The O-Mannosylation Pathway: Glycosyltransferases and Proteins Implicated in Congenital Muscular Dystrophy. Journal of Biological Chemistry. 2013 Mar;288(10):6930–5. doi: 10.1074/jbc.r112.438978.; Bertini E, D'Amico A, Gualandi F, Petrini S. Congenital Muscular Dystrophies: A Brief Review. Seminars in Pediatric Neurology. 2011 Dec;18(4):277–88. doi: 10.1016/j.spen.2011.10.010.
Metabolites
Enzyme
| EC Number | name | full name | note |
|---|---|---|---|
| 2.4.1.109 | dolichyl-phosphate-mannose-protein mannosyltransferase | dolichyl-phosphate-D-mannose:protein O-D-mannosyltransferase |
Proteins
| Protein ID | name | full name |
|---|