UGDH (UDP-Glucose 6-Dehydrogenase): Genetics, Function, and Clinical Significance
Comprehensive gene card for UGDH, covering genomic context, expression, mutations, and disease associations.
Gene Information Card
| Symbol | UGDH |
|---|---|
| Full Name | UDP-glucose 6-dehydrogenase |
| Gene Type | protein coding |
| Chromosomal Location | 4p15.1 |
| NCBI Gene ID | 7358 ncbi.nlm.nih.gov/gene/7358 |
| Ensembl ID | ENSG00000009844 |
| UniProt ID | O60701 |
| OMIM ID | 603370 |
| HGNC ID | 12556 |
| Aliases | GDH, UDP-GlcDH, UDPGDH |
Description
UGDH encodes UDP-glucose 6-dehydrogenase, an enzyme that catalyzes the NAD+-dependent oxidation of UDP-glucose to UDP-glucuronic acid. This reaction is a critical step in the biosynthesis of glycosaminoglycans, proteoglycans, and xenobiotic metabolism. The enzyme is a homohexamer and is localized to the cytoplasm. UGDH is involved in cellular processes such as cell adhesion, migration, and proliferation, and its expression is altered in various cancers and fibrotic diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Altered UGDH expression affects hyaluronan and proteoglycan synthesis, influencing tumor growth and metastasis. | COSMIC: mutations and expression changes observed in various cancers; PubMed studies. |
| Pulmonary fibrosis | Increased UGDH activity leads to excessive extracellular matrix deposition. | Studies show upregulation in fibrotic lung tissue (PubMed). |
| Developmental disorders | Homozygous mutations in UGDH cause a rare syndrome with intellectual disability and skeletal abnormalities. | OMIM: 603370; case reports. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 9.8 | Medium |
| Lung | 7.5 | Low |
| Brain | 5.2 | Low |
| Heart | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Liver cancer cell line; high expression |
| A549 | 8.7 | Lung carcinoma; moderate |
| MCF7 | 6.3 | Breast cancer; low-moderate |
| HEK293 | 10.1 | Embryonic kidney; moderate |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.986G>A (p.Arg329His) | Missense | Rare (0.01% in gnomAD) | Reduced enzyme activity; associated with developmental disorder |
| c.1123C>T (p.Arg375Trp) | Missense | Rare | Loss of function; implicated in disease |
| c.1475A>G (p.Tyr492Cys) | Missense | Somatic in cancer | Altered catalytic activity; potential gain-of-function |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce or abolish enzyme activity, leading to impaired UDP-glucuronic acid synthesis and disrupted extracellular matrix production.
Gain of Function (GOF)
Somatic mutations that increase enzyme activity or stability, potentially promoting cancer cell proliferation and metastasis.
Dominant Negative (DN)
Not well-documented; possible if mutant subunits interfere with hexamer assembly.
View complete mutation data：
Gene Ontology (GO)
| • UDP-glucose 6-dehydrogenase activity | • NAD binding |
| • oxidoreductase activity | • cytoplasm |
| • response to hypoxia | • glycosaminoglycan biosynthetic process |
Pathways
• Pentose and glucuronate interconversions
• Metabolism of xenobiotics by cytochrome P450
• Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate
• Heparan sulfate / heparin biosynthesis
Protein Summary
UGDH is a 52 kDa enzyme that forms a homohexamer. Each subunit binds NAD+ and UDP-glucose. The enzyme undergoes substrate-induced conformational changes. It is allosterically inhibited by UDP-xylose. Post-translational modifications include phosphorylation and acetylation, which modulate its activity. UGDH is essential for the synthesis of UDP-glucuronic acid, a precursor for glucuronidation of xenobiotics and for the production of glycosaminoglycans.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UGDH Knockout HEK293 Cell Line | EDJ-KQ2012 | Human | 7358 | Details Get a Quote |
| UGDH Knockout A-549 Cell Line | EDJ-KQ22033 | Human | 7358 | Details Get a Quote |
| UGDH Knockout HCT 116 Cell Line | EDJ-KQ22034 | Human | 7358 | Details Get a Quote |
| UGDH Knockout HeLa Cell Line | EDJ-KQ22035 | Human | 7358 | Details Get a Quote |
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