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ALG3 / NOT is 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.
Gene Name: | ALG3, alpha-1,3- mannosyltransferase |
Synonyms: | ALG3, CDGS4, CDG1D, D16Ertd36e, NOT, NOT56L, Not56-like protein, Not56 |
Target Sequences: | NM_005787 NP_005778.1 Q92685 |
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