This gene encodes a member of the glycosyltransferase 1 family. The encoded protein acts as an alpha 1, 3 mannosyltransferase, mannosylating Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)-dolichol diphosphate. Defects in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ii). Alternative splicing results in multiple transcript variants.
应用类型
IHC,WB
免疫原
Recombinant fusion protein containing a sequence corresponding to amino acids 197-416 of human ALG2 (NP_149078.1).
