Defective ALG14 does not transfer GlcNAc from UDP-GlcNAc to GlcNAcDOLP

Stable Identifier
R-HSA-5633241
Type
Reaction [transition]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane, integral component of cytoplasmic side of endoplasmic reticulum membrane, cytosol
ReviewStatus
5/5
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Defective ALG14 does not transfer GlcNAc from UDP-GlcNAc to GlcNAcDOLP
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UDP-N-acetylglucosamine transferase subunit ALG14 homolog (ALG14) forms a complex with ALG13 protein and is required for the addition of the second N-acetylglucosamine (GlcNAc) to the lipid linked oligosaccharide (LLO) intermediate (GlcNAcDOLDP) (Gao et al. 2005). Defects in ALG14 can cause congenital myasthenic syndrome (ALG14-CMS), which is due to a defect in neuromuscular signal transmission (Cossins et al. 2013). The most commonly affected muscles include proximal limb muscles. Mutations causing ALG14-CMS include p.P65L and p.R104* (Cossins et al. 2013).
Literature References
PubMed ID Title Journal Year
16100110 Alg14 recruits Alg13 to the cytoplasmic face of the endoplasmic reticulum to form a novel bipartite UDP-N-acetylglucosamine transferase required for the second step of N-linked glycosylation

Tachikawa, H, Gao, XD, Sato, T, Dean, N, Jigami, Y

J Biol Chem 2005
23404334 Congenital myasthenic syndromes due to mutations in ALG2 and ALG14

Seidhamed, MZ, Salih, MA, Cossins, J, Laval, S, Finlayson, S, Belaya, K, Carboni, N, Maxwell, S, Liu, WW, Zoltowska, K, Hicks, D, Farsani, GT

Brain 2013
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Catalyst Activity

N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity of ALG13:ALG14 mutants [endoplasmic reticulum membrane]

Physical Entity
ALG13:ALG14 mutants [endoplasmic reticulum membrane] (Homo sapiens)
Activity
N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)
Normal reaction
ALG13:ALG14 transfers GlcNAc from UDP-GlcNAc to GlcNAcDOLP (Homo sapiens)
Functional status

Loss of function of ALG13:ALG14 mutants [endoplasmic reticulum membrane]

Normal Entity
Disease Entity
Status
Disease
Authored
Jassal, B  (2014-10-31)
Reviewed
Belaya, K  (2014-10-31)
Created
Jassal, B  (2014-10-31)
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