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).
Cossins, J, Belaya, K, Hicks, D, Salih, MA, Finlayson, S, Carboni, N, Liu, WW, Maxwell, S, Zoltowska, K, Farsani, GT, Laval, S, Seidhamed, MZ
Gao, XD, Tachikawa, H, Sato, T, Jigami, Y, Dean, N
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