ALG9 transfers Man to N-glycan precursor (GlcNAc)2 (Man)6 (PP-Dol)1

Stable Identifier
R-HSA-446215
Type
Reaction [transition]
Species
Homo sapiens
Compartment
Synonyms
Addition of the seventh mannose to the N-glycan precursor by ALG9
ReviewStatus
5/5
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The seventh mannose is added to the N-glycan precursor. This reaction occurs in the ER lumen and uses dolichyl phosphate D-mannose as the mannose donor with ALG9 mediating the reaction. Defects in ALG9 are the cause of congenital disorder of glycosylation type 1L (CDG1L) (Frank CG et al, 2004; Weinstein M et al, 2005). For many years ALG9 has been thought to be involved in bipolar affective disorder (Baysal BE et al, 2002), but this hypothesis has been proven wrong (Baysal BE et al, 2006).
Literature References
PubMed ID Title Journal Year
12030331 A mannosyltransferase gene at 11q23 is disrupted by a translocation breakpoint that co-segregates with bipolar affective disorder in a small family

Baysal, BE, Badner, JA, Corona, W, Nimgaonkar, VL, Ferrell, RE, Detera-Wadleigh, SD, Willett-Brozick, JE

Neurogenetics 2002
15148656 Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL

Hennet, T, Eyaid, W, Frank, CG, Grubenmann, CE, Berger, EG, Aebi, M

Am J Hum Genet 2004
16859551 Common variations in ALG9 are not associated with bipolar I disorder: a family-based study

Bacanu, SA, Baysal, BE, Detera-Wadleigh, S, Nimgaonkar, VL, Willett-Brozick, JE

Behav Brain Funct 2006
15945070 CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features

Hennet, T, Clarke, JT, Frank, CG, Seargeant, L, Matthijs, G, Neupert, C, Grubenmann, CE, Weinstein, M, Poplawski, N, Schollen, E, Griffiths, A, Aebi, M

Am J Med Genet A 2005
Participants
Participates
Catalyst Activity

alpha-1,2-mannosyltransferase activity of ALG9 [endoplasmic reticulum membrane]

This event is regulated
Orthologous Events
Authored
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