Gene Symbol | ALG3 |
Entrez Gene ID | 10195 |
Full Name | ALG3, alpha-1,3- mannosyltransferase |
Synonyms | CDG1D,CDGS4,CDGS6,D16Ertd36e,NOT56L,Not56,not |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the ALG3 family. The encoded protein catalyses the addition of the first dol-P-Man derived mannose in an alpha 1,3 linkage to Man5GlcNAc2-PP-Dol. Defects in this gene have been associated with congenital disorder of glycosylation type Id (CDG-Id) characterized by abnormal N-glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]. |
Disorder MIM: | |
Disorder Html: | Congenital disorder of glycosylation, type Id, 601110 (3) |