Ontology highlight
ABSTRACT:
SUBMITTER: Kranz C
PROVIDER: S-EPMC1182267 | biostudies-literature | 2004 Mar
REPOSITORIES: biostudies-literature
Kranz Christian C Denecke Jonas J Lehle Ludwig L Sohlbach Kristina K Jeske Stefanie S Meinhardt Friedhelm F Rossi Rainer R Gudowius Sonja S Marquardt Thorsten T
American journal of human genetics 20040217 3
This study describes the discovery of a new inherited disorder of glycosylation named "CDG-Ik." CDG-Ik (congenital disorder of glycoslyation type Ik) is based on a defect of human mannosyltransferase I (MT-I [MIM 605907]), an enzyme necessary for the elongation of dolichol-linked chitobiose during N-glycan biosynthesis. Mutations in semiconserved regions in the corresponding gene, HMT-1 (yeast homologue, Alg1), in two patients caused drastically reduced enzyme activity, leading to a severe disea ...[more]