Aliases for UXS1 Gene
External Ids for UXS1 Gene
Previous GeneCards Identifiers for UXS1 Gene
This gene encodes an enzyme found in the perinuclear Golgi which catalyzes the synthesis of UDP-xylose used in glycosaminoglycan (GAG) synthesis on proteoglycans. The GAG chains are covalently attached to proteoglycans which participate in signaling pathways during development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]
GeneCards Summary for UXS1 Gene
UXS1 (UDP-Glucuronate Decarboxylase 1) is a Protein Coding gene. Diseases associated with UXS1 include Schneckenbecken Dysplasia and Walker-Warburg Syndrome. Among its related pathways are Amino sugar and nucleotide sugar metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and coenzyme binding. An important paralog of this gene is GMDS.
UniProtKB/Swiss-Prot Summary for UXS1 Gene
Catalyzes the NAD-dependent decarboxylation of UDP-glucuronic acid to UDP-xylose. Necessary for the biosynthesis of the core tetrasaccharide in glycosaminoglycan biosynthesis.