UGDH

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.[provided by RefSeq, May 2010]

Full Name

UDP-Glucose 6-Dehydrogenase

Function

Catalyzes the formation of UDP-alpha-D-glucuronate, a constituent of complex glycosaminoglycans (PubMed:21961565, PubMed:21502315, PubMed:23106432, PubMed:22123821, PubMed:25478983, PubMed:27966912, PubMed:30420606, PubMed:30457329).
Required for the biosynthesis of chondroitin sulfate and heparan sulfate. Required for embryonic development via its role in the biosynthesis of glycosaminoglycans (By similarity).
Required for proper brain and neuronal development (PubMed:32001716).

Biological Process

Biological Process carbohydrate metabolic process Source:UniProtKB-KW
Biological Process chondroitin sulfate biosynthetic process Source:UniProtKB
Biological Process gastrulation with mouth forming second Source:UniProtKB
Biological Process glycosaminoglycan biosynthetic process Source:GO_Central1 Publication
Biological Process heparan sulfate proteoglycan biosynthetic process Source:UniProtKB
Biological Process neuron development Source:UniProtKB1 Publication
Biological Process protein hexamerization Source:UniProtKB1 Publication
Biological Process UDP-glucuronate biosynthetic process Source:UniProtKB1 Publication

Cellular Location

cytosol
extracellular exosome
nucleoplasm
nucleus

Involvement in disease

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.