The dpy19l3 gene encodes a transmembrane protein localized to the endoplasmic reticulum and golgi apparatus. It functions as a c-mannosyltransferase enzyme, catalyzing the attachment of mannose residue...[+]

The dpy19l3 gene encodes a transmembrane protein localized to the endoplasmic reticulum and golgi apparatus. It functions as a c-mannosyltransferase enzyme, catalyzing the attachment of mannose residues to specific tryptophan residues in target proteins through a c-glycosidic bond, a post-translational modification important for protein stability and secretion. This activity is associated with developmental processes including gastrulation, cell migration, and left-right patterning. Expression is detected in the brain, spinal cord, neural tube, eye, otic vesicle, branchial arches, pronephros, and somites during embryogenesis. [-]

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