Gene: UGDH

Alternate names for this Gene: DEE84|EIEE84|GDH|UDP-GlcDH|UDPGDH|UGD

Gene Summary: 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. These glycosylated compounds are common components of the extracellular matrix and likely play roles in signal transduction, cell migration, and cancer growth and metastasis. The expression of this gene is up-regulated by transforming growth factor beta and down-regulated by hypoxia. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 4

Location in Chromosome : 4p14

Description of this Gene: UDP-glucose 6-dehydrogenase

Type of Gene: protein-coding

rs775162839 in UGDH gene and Epileptic encephalopathy PMID 32001716 2020 Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.