Pathway
Defective ALG14 causes ALG14-CMS
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). Defects in ALG14 can cause congenital myasthenic syndrome (ALG14-CMS), which is due to a defect in neuromuscular signal transmission. The most commonly affected muscles include proximal limb muscles. Mutations causing ALG14-CMS include p.P65L and p.R104*.
REACT:R-HSA-5633231Reactome
What the reference databases state
Statements
2 statements
2 statements · 1 reference database · Subject: Defective ALG14 causes ALG14-CMS · Sources: Reactome
- ALG13 participates in Defective ALG14 causes ALG14-CMSProteinReactome R-HSA-5633231Inferred only
- ALG14 participates in Defective ALG14 causes ALG14-CMSProteinReactome R-HSA-5633231Inferred only