InterPro domain: IPR027054

General Information

  • Identifier IPR027054
  • Description Mannosyltransferase ALG2
  • Number of genes 163
  • Gene duplication stats Loading...
  • Associated GO terms GO:0006486   GO:0004378  

Abstract

ALG2 mannosylates Man2GlcNAc(2)-dolichol diphosphate and Man1GlcNAc(2)-dolichol diphosphate to form Man3GlcNAc(2)-dolichol diphosphate [ 1 ].

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 [ 2 ].


1. A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis. J. Biol. Chem. 278, 22498-505

Species distribution

Gene table