ALG8

ALG8 is a multipass endoplasmic reticulum membrane glucosyltransferase that builds the lipid-linked precursor for protein N-linked glycosylation. On the lumenal side of the membrane it transfers an alpha-1,3-linked glucose from dolichyl-phosphate-glucose to Glc1Man9GlcNAc2-PP-dolichol, producing the diglucosylated intermediate used by ALG10. This is the second of the three glucose additions in precursor assembly. Biallelic loss-of-function variants cause ALG8 congenital disorder of glycosylation, with defective lipid-linked oligosaccharide assembly and protein hypoglycosylation. Heterozygous loss-of-function variants are associated with polycystic liver disease, sometimes with kidney cysts.

Disorders

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