Function
Catalyzes the formation of UDP-alpha-D-glucuronate, a constituent of complex glycosaminoglycans. Required for the biosynthesis of chondroitin sulfate and heparan sulfate. Required for embryonic development via its role in the biosynthesis of glycosaminoglycans.
Biological Context
Tissue Specificity: Detected in heart, placenta, liver, pancreas, spleen, thymus, prostate, ovary, small intestine and colon. Widely expressed
Disease Association: Developmental and epileptic encephalopathy 84 (DEE84) : A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE84 is an autosomal recessive form characterized by onset of refractory seizures in the first months of life. [The disease is caused by variants affecting the gene represented in this entry]
Pathway: Nucleotide-sugar biosynthesis; UDP-alpha-D-glucuronate biosynthesis; UDP-alpha-D-glucuronate from UDP-alpha-D-glucose: step 1/1
Product Specifications
Recombinant Human UDP-glucose 6-dehydrogenase (UGDH) is a recombinant protein from Homo sapiens (Human), expressed in E.coli, covering amino acids 1-494aa, with N-terminal 6xHis-SUMO-tagged tag, molecular weight 71.0kDa, purity Greater than 90% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications. Explore more Enzyme proteins →
