UGDH

Chr 4AR

UDP-glucose 6-dehydrogenase

Also known as: DEE84, EIEE84, GDH, UDP-GlcDH, UDPGDH, UGD

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]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Developmental and epileptic encephalopathy 84MIM #618792
AR

Clinical highlights

Gene-disease validity (ClinGen)
congenital heart disease · ADDisputedevidence questions this relationship
0
Active trials
Pubs (1 yr)
P/LP submissions
P/LP missense
0.72
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.72LOEUF
pLI 0.001
Z-score 2.53
OE 0.41 (0.250.72)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
2.30Z-score
OE missense 0.61 (0.530.69)
164 obs / 270.7 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.41 (0.250.72)
00.351.4
Missense OE?0.61 (0.530.69)
00.61.4
Synonymous OE?0.87
01.21.6
LoF obs/exp: 9 / 21.8Missense obs/exp: 164 / 270.7Syn Z: 1.00

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

UGDH · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →