TGDS - TDP-glucose 4,6-dehydratase Gene
Also Known as TDPGD; SDR2E1; CATMANS
Species: Homo sapiens
About TGDS
This gene has 3 transcripts (splice variants), 214 orthologues and 10 paralogues. Ubiquitous expression in thyroid (RPKM 7.9), liver (RPKM 6.7) and 25 other tissues.
Summary
The protein encoded by this gene is a member of the short-chain dehydrogenases/reductases (SDR) superfamily, and is thought to contain a nicotinamide adenine dinucleotide (NAD) binding domain. This large SDR family of Enzymes is involved in the metabolism of a variety of compounds, including prostaglandins, retinoids, lipids, steroid Hormones, and xenobiotics. Mutations in this gene have been associated with Catel-Manzke syndrome, which is characterized by Pierre Robin sequence, and radial deviation of the index finger due to the presence of an accessory bone between the index finger and its proximal phalanx. Pierre Robin sequence is defined by an undersized jaw, backwards displacement of the tongue base that causes an obstruction of the airways, and can also be associated with a cleft palate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
TGDS Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001304430.2 | NP_001291359.1 | dTDP-D-glucose 4,6-dehydratase isoform 2 |
| NM_014305.4 | NP_055120.1 | dTDP-D-glucose 4,6-dehydratase isoform 1 |
TGDS Protein Structure
Epimerase: NAD dependent epimerase/dehydratase family (20 - 258)
- 0
- 100
- 200
- 300
- 350 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
dTDP-D-glucose 4,6-dehydratase |
|
TGDS Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
TGDS | O95455 | HTT | Homo sapiens | P42858 | 32814053 | |
|
Intra
|
TGDS | O95455 | HTT | Homo sapiens | P42858 | 32814053 | |
|
Intra
|
TGDS | O95455 | HTT | Homo sapiens | P42858 | 32814053 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Catel-Manzke Syndrome |
|
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| Hyperphalangy |
|
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| Hydroxykynureninuria |
|
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| Temtamy Preaxial Brachydactyly Syndrome |
|
|
| Alzheimer Disease 8 |
|
|
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
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| Dysostosis |
|
|
| Saul-Wilson Syndrome |
|
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| Macroglossia |
|
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| Tarp Syndrome |
|
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| Mixed Sleep Apnea |
|
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| Juvenile Glaucoma |
|
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| Larsen Syndrome |
|
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| Fraser Syndrome 1 |
|
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| Laryngomalacia |
|
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| Cleft Palate, Isolated |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | TGDS | VGNC | VGNC:35799 |
| Canis familiaris | TGDS | VGNC | VGNC:47307 |
| Felis catus | TGDS | VGNC | VGNC:66129 |
| Macaca mulatta | TGDS | VGNC | VGNC:79243 |
| Rattus norvegicus | TGDS | RGD | RGD:1306544 |
| Mus musculus | TGDS | MGD | MGI:1923605 |
| Others | TGDS | NCBI |