The alg12 protein functions as a glycosyltransferase localized to the endoplasmic reticulum, where it catalyzes the addition of a mannose residue onto the lipid-linked oligosaccharide precursor for n-l...[+]

The alg12 protein functions as a glycosyltransferase localized to the endoplasmic reticulum, where it catalyzes the addition of a mannose residue onto the lipid-linked oligosaccharide precursor for n-linked glycosylation. Its mrna is expressed during development in structures including the brain, eye, neural tube, and branchial arches. [-]

             congenital disorder of glycosylation Ig

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD