Aliases for UGCG Gene
External Ids for UGCG Gene
Previous GeneCards Identifiers for UGCG Gene
This gene encodes an enzyme that catalyzes the first glycosylation step in the biosynthesis of glycosphingolipids, which are membrane components containing lipid and sugar moieties. The product of this reaction is glucosylceramide, which is the core structure of many glycosphingolipids. [provided by RefSeq, Dec 2014]
GeneCards Summary for UGCG Gene
UGCG (UDP-Glucose Ceramide Glucosyltransferase) is a Protein Coding gene. Diseases associated with UGCG include Sandhoff Disease and Fabry Disease. Among its related pathways are Sphingolipid metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include ceramide glucosyltransferase activity.
UniProtKB/Swiss-Prot Summary for UGCG Gene
Catalyzes at the cytosolic surface of the Golgi, the initial step of the glucosylceramide-based glycosphingolipid/GSL synthetic pathway, the transfer of glucose from UDP-glucose to ceramide to produce glucosylceramide/GlcCer (PubMed:8643456, PubMed:1532799). Glucosylceramide is the core component of glycosphingolipids/GSLs, amphipathic molecules consisting of a ceramide lipid moiety embedded in the outer leaflet of the membrane, linked to one of hundreds of different externally oriented oligosaccharide structures (PubMed:8643456). Glycosphingolipids are essential components of membrane microdomains that mediate membrane trafficking and signal transduction. They are implicated in many fundamental cellular processes, including growth, differentiation, migration, morphogenesis, cell-to-cell and cell-to-matrix interactions. They are required for instance in the proper development and functioning of the nervous system. As an example of their role in signal transduction, they regulate the leptin receptor/LEPR in the leptin-mediated signaling pathway. They also play an important role in the establishment of the skin barrier regulating keratinocyte differentiation and the proper assembly of the cornified envelope. The biosynthesis of GSLs is also required for the proper intestinal endocytic uptake of nutritional lipids (By similarity).