Defective ALG14 causes congenital myasthenic syndrome (ALG14-CMS)

Stable Identifier
R-HSA-5633231
Type
Pathway
Species
Homo sapiens
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Defective ALG14 causes congenital myasthenic syndrome (ALG14-CMS)
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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
23404334 Congenital myasthenic syndromes due to mutations in ALG2 and ALG14

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

Brain 2013
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

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

J Biol Chem 2005
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Disease
Name Identifier Synonyms
congenital myasthenic syndrome 3635
Authored
Jassal, B  (2014-10-31)
Reviewed
Belaya, K  (2014-10-31)
Created
Jassal, B  (2014-10-31)
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