| Modification Notes |
ALG1 (asparagine-linked glycosylation 1), also known as HMT1 or HMAT1, is a 464 amino acid single-pass type II membrane protein that localizes to the endoplasmic reticulum (ER) and belongs to the glucosyltransferase superfamily. Involved in protein modification, ALG1 catalyzes the formation of the lipid-linked precursor oligosaccharide for N-glycosylation and is involved in assembling the precursor on the cytoplasmic side of the ER. Defects in the gene encoding ALG1 are the cause of congenital disorder of glycosylation type 1K (CDG1K), a severe inherited disease that results in a defect in N-glycosylation and is characterized by nervous system disorders, hypotonia, coagulation disorders and psychomotor retardation. |
