UDP-glucose-6-dehydrogenase (UGDH) is a cytosolic, hexameric enzyme that converts UDP-glucose to UDP-glucuronic acid (UDP-GlcUA), a key reaction in hormone and xenobiotic metabolism and in the production of extracellular matrix precursors.

UDP-glucose 6-dehydrogenase is a cytosolic enzyme that in humans is encoded by the UGDH gene. [5][6][7] The protein encoded by this gene converts UDP-glucose to UDP-glucuronate and thereby participates in the biosynthesis of glycosaminoglycans such as hyaluronan, chondroitin sulfate, and heparan sulfate.

2023年1月18日 · UGDH -related disorder is a rare genetic neurodevelopmental disorder characterized by global developmental delay, speech impairment, seizures and moderate to severe intellectual disability. It is caused by changes (mutations or variants) in the UGDH gene and is inherited in an autosomal recessive pattern.

2025年3月30日 · UGDH (UDP-Glucose 6-Dehydrogenase) is a Protein Coding gene. Diseases associated with UGDH include Developmental And Epileptic Encephalopathy 84 and Developmental And Epileptic Encephalopathy. Among its related pathways are Glucuronidation and Metapathway biotransformation Phase I and II.

2020年1月30日 · UGDH encodes an oxidoreductase that converts UDP-glucose to UDP-glucuronic acid, a key component of specific proteoglycans and glycolipids. Consistent with being loss-of-function alleles, we show...

UDP-glucose dehydrogenase (UGDH) encodes an oxidoreductase that converts two successive oxidations of UDP-glucose to produce UDP-glucuronic acid, a key component in the synthesis of several polysaccharides such as glycosaminoglycan and the disaccharide hyaluronic acid.

UGDH encodes an oxidoreductase that converts UDP-glucose to UDP-glucuronic acid, a key component of specific proteoglycans and glycolipids. Consistent with being loss-of-function alleles, we show using patients’ primary fibroblasts and biochemical assays, that these mutations either impair UGDH stability, oligomerization, or enzymatic activity.

2020年1月30日 · Developmental epileptic encephalopathies are devastating disorders characterized by intractable epileptic seizures and developmental delay. Here, we report an allelic series of germline recessive mutations in UGDH in 36 cases from 25 families presenting with epileptic encephalopathy with development …

2018年2月26日 · UDP-glucose 6-dehydrogenase (UGDH) produces UDP-α- d -glucuronic acid, the precursors for glycosaminoglycans (GAGs) and proteoglycans of the extracellular matrix. Elevated GAG formation has...

UDP-glucose 6-dehydrogenase regulates hyaluronic acid production and promotes breast cancer progression. This study defines UGDH as a key player for the production of extracellular matrix components that are essential for human brain development.