TGDS (TDP-Glucose 4,6-Dehydratase)
A gene encoding an enzyme involved in nucleotide-sugar metabolism, with potential roles in glycosylation and disease.
Gene Information Card
| Symbol | TGDS |
|---|---|
| Full Name | TDP-Glucose 4,6-Dehydratase |
| Gene Type | Protein coding |
| Chromosomal Location | 13q32.1 |
| NCBI Gene ID | 23483 ncbi.nlm.nih.gov/gene/23483 |
| Ensembl ID | ENSG00000134824 |
| UniProt ID | O95455 |
| OMIM ID | 616146 |
| HGNC ID | 20324 |
| Aliases | SDR2C1, dJ402H5.2 |
Description
The TGDS gene encodes TDP-glucose 4,6-dehydratase, an enzyme belonging to the short-chain dehydrogenase/reductase (SDR) family. It catalyzes the conversion of dTDP-D-glucose to dTDP-4-dehydro-6-deoxy-D-glucose, a key step in the biosynthesis of deoxy-thymidine diphosphate (dTDP)-L-rhamnose, which is important for cell wall and glycoconjugate synthesis in certain bacteria and potentially in human glycosylation pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Developmental and epileptic encephalopathy (DEE) | Mutations in TGDS may disrupt nucleotide-sugar metabolism, affecting glycosylation and neuronal function. | ClinVar, OMIM |
| Intellectual disability | Loss-of-function variants in TGDS have been associated with neurodevelopmental disorders. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 2.5 | Low |
| Liver | 1.8 | Low |
| Kidney | 1.2 | Low |
| Testis | 0.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 1.5 | Low expression |
| HeLa | 1.1 | Low expression |
| K562 | 0.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.374C>T (p.Thr125Met) | Missense | <0.01% | Unknown significance |
| c.682G>A (p.Gly228Arg) | Missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Homozygous or compound heterozygous loss-of-function mutations in TGDS are associated with developmental and epileptic encephalopathy.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • dTDP-glucose 4 (GO:0008460) | • coenzyme binding (GO:0050662) |
| • oxidoreductase activity (GO:0016491) | • nucleotide-sugar metabolic process (GO:0009225) |
Pathways
• dTDP-L-rhamnose biosynthesis (KEGG: map00523)
• Metabolism of nucleotides (Reactome: R-HSA-15869)
Protein Summary
TDP-glucose 4,6-dehydratase is a 351-amino acid protein that functions as a homodimer. It uses NADP+ as a cofactor to catalyze the dehydration of dTDP-D-glucose. The enzyme is localized in the cytoplasm and is expressed at low levels across multiple tissues, with highest expression in brain and liver.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TGDS Knockout HEK293 Cell Line | EDJ-KQ8024 | Human | 23483 | Details Get a Quote |
| TGDS Knockout A-549 Cell Line | EDJ-KQ33800 | Human | 23483 | Details Get a Quote |
| TGDS Knockout HCT 116 Cell Line | EDJ-KQ33801 | Human | 23483 | Details Get a Quote |
| TGDS Knockout HeLa Cell Line | EDJ-KQ33802 | Human | 23483 | Details Get a Quote |
