Gene Symbol | ALG2 |
Entrez Gene ID | 85365 |
Full Name | ALG2, alpha-1,3/1,6-mannosyltransferase |
Synonyms | CDG1I,CDGIi,CMS14,CMSTA3,NET38,hALPG2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Nov 2008]. |
Disorder MIM: | |
Disorder Html: | ?Congenital disorder of glycosylation, type Ii, 607906 (3); Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228 (3) |