UGDH Chromosome 4
UDP-glucose 6-dehydrogenase
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What This Gene Does
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]
Associated Conditions (5)
Epileptic encephalopathy
Developmental and epileptic encephalopathy
84
UGDH-related disorder
West syndrome
Key Variants
RS1053767552
Likely pathogenic
Epileptic encephalopathy, Epileptic encephalopathy
Health Risk
RS113094436
Likely pathogenic
Epileptic encephalopathy, Developmental and epileptic encephalopathy, 84
Health Risk
RS1186496501
Likely pathogenic
Epileptic encephalopathy, Epileptic encephalopathy
Health Risk
RS1260191836
Likely pathogenic
Epileptic encephalopathy, Epileptic encephalopathy
Health Risk
RS1306655122
Likely pathogenic
Epileptic encephalopathy, Epileptic encephalopathy
Health Risk
RS1381665298
Likely pathogenic
Epileptic encephalopathy, Epileptic encephalopathy
Health Risk
RS1578265048
Likely pathogenic
Epileptic encephalopathy, Epileptic encephalopathy
Health Risk
RS1578265068
Likely pathogenic
Epileptic encephalopathy, Epileptic encephalopathy
Health Risk
RS1578269200
Likely pathogenic
Epileptic encephalopathy, Epileptic encephalopathy
Health Risk
RS1578269761
Likely pathogenic
Epileptic encephalopathy, Epileptic encephalopathy
Health Risk
RS1578270476
Likely pathogenic
Epileptic encephalopathy, Epileptic encephalopathy
Health Risk
RS1578282133
Likely pathogenic
Epileptic encephalopathy, Epileptic encephalopathy
Health Risk
All Variants (22)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1053767552 | Health Risk | Likely pathogenic | Epileptic encephalopathy, Epileptic encephalopathy |
| RS113094436 | Health Risk | Likely pathogenic | Epileptic encephalopathy, Developmental and epileptic encephalopathy, 84 |
| RS1186496501 | Health Risk | Likely pathogenic | Epileptic encephalopathy, Epileptic encephalopathy |
| RS1260191836 | Health Risk | Likely pathogenic | Epileptic encephalopathy, Epileptic encephalopathy |
| RS1306655122 | Health Risk | Likely pathogenic | Epileptic encephalopathy, Epileptic encephalopathy |
| RS1381665298 | Health Risk | Likely pathogenic | Epileptic encephalopathy, Epileptic encephalopathy |
| RS1578265048 | Health Risk | Likely pathogenic | Epileptic encephalopathy, Epileptic encephalopathy |
| RS1578265068 | Health Risk | Likely pathogenic | Epileptic encephalopathy, Epileptic encephalopathy |
| RS1578269200 | Health Risk | Likely pathogenic | Epileptic encephalopathy, Epileptic encephalopathy |
| RS1578269761 | Health Risk | Likely pathogenic | Epileptic encephalopathy, Epileptic encephalopathy |
| RS1578270476 | Health Risk | Likely pathogenic | Epileptic encephalopathy, Epileptic encephalopathy |
| RS1578282133 | Health Risk | Likely pathogenic | Epileptic encephalopathy, Epileptic encephalopathy |
| RS201894374 | Health Risk | Likely pathogenic | Epileptic encephalopathy, Epileptic encephalopathy |
| RS756467468 | Health Risk | Likely pathogenic | Epileptic encephalopathy, Epileptic encephalopathy |
| RS770456604 | Health Risk | Likely pathogenic | Epileptic encephalopathy, Epileptic encephalopathy |
| RS779324355 | Health Risk | Likely pathogenic | Epileptic encephalopathy, Epileptic encephalopathy |
| RS200059198 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 84, Epileptic encephalopathy |
| RS1578264574 | Health Risk | Pathogenic/Likely pathogenic | Epileptic encephalopathy, Developmental and epileptic encephalopathy, 84 |
| RS1578274054 | Health Risk | Pathogenic/Likely pathogenic | Epileptic encephalopathy, Developmental and epileptic encephalopathy, 84 |
| RS749975104 | Health Risk | Pathogenic/Likely pathogenic | Epileptic encephalopathy, Developmental and epileptic encephalopathy, 84 |
| RS769243823 | Health Risk | Pathogenic/Likely pathogenic | Epileptic encephalopathy, Developmental and epileptic encephalopathy, 84 |
| RS775162839 | Health Risk | Pathogenic/Likely pathogenic | Epileptic encephalopathy, Developmental and epileptic encephalopathy, 84 |