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ALG2 is 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.
Gene Name: | ALG2, alpha-1,3/1,6-mannosyltransferase |
Synonyms: | ALG2, CDGIi, HALPG2, Homolog of yeast ALG2, NET38 |
Target Sequences: | NM_033087 NP_149078.1 Q9H553 |
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