UGDH

Chr 4p14

UDP-glucose 6-dehydrogenase

Aliases:: GDH, UDPGDH, UDP-GlcDH, UGD
MANE:: ENST00000316423.11

OMIM: 603370 ↗NCBI: 7358 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

UGDH · O60701

v62025-08-01

Predicted Aligned Error matrix for UGDH — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

93.9/ 100

Very high

494 residues

Confidence breakdown

Very high(≥ 90)92%
Confident(70–90)3%
Low(50–70)3%
Very low(< 50)3%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

developmental and epileptic encephalopathy, 84
0.79
Epileptic encephalopathy
0.49
hereditary disease
0.41
neurodegenerative disease
0.34
infantile spasms
0.27
autoimmune disorder of central nervous system
0.25
hemorrhoid
0.24
color vision disorder
0.23
neoplasm
0.11
glioblastoma
0.09

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

UDP-glucose 6-dehydrogenase

Catalyzes the formation of UDP-alpha-D-glucuronate, a constituent of complex glycosaminoglycans (PubMed:21502315, PubMed:21961565, PubMed:22123821, PubMed:23106432, 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)