Defective DPM3 causes CDG-1o

Lefeber DJ, Schönberger J, Morava E, Guillard M, Huyben KM, Verrijp K, Grafakou O, Evangeliou A, Preijers FW, Manta P, Yildiz J, Grünewald S, Spilioti M, van den Elzen C, Klein D, Hess D, Ashida H, Hofsteenge J, Maeda Y, van den Heuvel L, Lammens M, Lehle L, Wevers RA. Deficiency of Dol-P-Man Synthase Subunit DPM3 Bridges the Congenital Disorders of Glycosylation with the Dystroglycanopathies. The American Journal of Human Genetics. 2009 Jul;85(1):76–86. doi: 10.1016/j.ajhg.2009.06.006.; Maeda Y, Tanaka S, Hino J, Kangawa K, Kinoshita T. Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3. EMBO J. 2000 Jun 01;19(11):2475–82. PMID: 10835346; PMCID: PMC212771.

Metabolites



Enzyme

EC Number name full name note
2.4.1.83 dolichyl-phosphate beta-D-mannosyltransferase GDP-mannose:dolichyl-phosphate beta-D-mannosyltransferase


Proteins

Protein ID name full name