The gene alg9 encodes an alpha-1,2-mannosyltransferase, which is an endoplasmic reticulum membrane-bound enzyme involved in the early steps of lipid-linked oligosaccharide assembly for N-glycosylation....[+]

The gene alg9 encodes an alpha-1,2-mannosyltransferase, which is an endoplasmic reticulum membrane-bound enzyme involved in the early steps of lipid-linked oligosaccharide assembly for N-glycosylation. This protein localizes to the endoplasmic reticulum membrane. Expression is detected in the brain, eye, neural tube, and pronephros during development. [-]

             congenital disorder of glycosylation Il

          GILLESSEN-KAESBACH-NISHIMURA SYNDROME; GIKANIS

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