The st8sia6 gene encodes a polysialyltransferase, which is a type II membrane-bound glycosyltransferase localized to the golgi apparatus. This enzyme catalyzes the transfer of alpha-2,8-linked sialic a...[+]

The st8sia6 gene encodes a polysialyltransferase, which is a type II membrane-bound glycosyltransferase localized to the golgi apparatus. This enzyme catalyzes the transfer of alpha-2,8-linked sialic acid residues to form polysialic acid chains on neural cell adhesion molecules (NCAM), a modification associated with dynamic morphogenetic processes during embryonic development including neural crest cell migration and motor axon pathfinding. Expression is detected in the developing nervous system, particularly in the brain, cranial ganglia, spinal cord, and branchial arches. [-]

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