Primary Identifier | IPR027054 | Type | Family |
Short Name | ALG2 |
description | ALG2 mannosylates Man2GlcNAc(2)-dolichol diphosphate and Man1GlcNAc(2)-dolichol diphosphate to form Man3GlcNAc(2)-dolichol diphosphate [].Defects in ALG2 are the cause of congenital disorder of glycosylation type 1I (CDG1I). CDGs are a family of severe inherited diseases caused by a defect in protein N-glycosylation. They are characterised by under-glycosylated serum proteins []. |