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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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TGDS
TDP-glucose 4,6-dehydratase
Chromosome 13 Β· 13q32.1
NCBI Gene: 23483Ensembl: ENSG00000088451.12HGNC: HGNC:20324UniProt: O95455
20PubMed Papers
21Diseases
0Drugs
11Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
dTDP-glucose 4,6-dehydratase activityprotein bindingglycosaminoglycan biosynthetic processendoplasmic reticulumCatel-Manzke syndromeneurodegenerative diseasegenetic disordercleft palate
✦AI Summary

TGDS (TDP-glucose 4,6-dehydratase) is a nucleotide sugar metabolic enzyme that catalyzes the conversion of UDP-glucose into UDP-4-keto-6-deoxyglucose 1. This enzyme plays a critical role in glycosaminoglycan biosynthesis and skeletal development 1. Beyond its canonical metabolic function, TGDS produces an 'enzyme-rescue metabolite' that maintains the activity of the enzyme UXS1 under conditions of low NAD+ availability 1. The UDP-4-keto-6-deoxyglucose product mimics UXS1's reaction intermediate and regenerates essential NAD+ cofactor within the catalytic pocket, completing the UXS1 catalytic cycle when cellular NAD+ is scarce 1. Loss-of-function mutations in TGDS cause Catel-Manzke syndrome, an autosomal recessive skeletal dysplasia characterized by Pierre Robin sequence and bilateral digital malformations 23. The pathogenic variants impair enzyme activity and protein stability 4. Disease manifestations result from impaired glycan synthesis essential for skeletal development due to UXS1 inactivation 1. The phenotypic spectrum of TGDS-associated Catel-Manzke syndrome extends beyond the cardinal features to include disproportionate short stature 3. Zebrafish models confirm tgds's role in craniofacial cartilage development and sulfate glycosaminoglycan synthesis 4.

Sources cited
1
TGDS converts UDP-glucose to UDP-4-keto-6-deoxyglucose; this product rescues UXS1 enzyme function by regenerating NAD+ under low NAD+ conditions; deficiency impairs glycan synthesis crucial for skeletal development
PMID: 40836090
2
Homozygous and compound heterozygous TGDS mutations cause Catel-Manzke syndrome; identified six different disease-causing mutations; loss of function is the underlying mechanism
PMID: 25480037
3
TGDS pathogenic variants cause Catel-Manzke syndrome with variable phenotypes including mild hand malformations and disproportionate short stature, broadening the clinical spectrum
PMID: 31769200
4
Zebrafish tgds demonstrates UDP-D-glucose 4,6-dehydratase activity; CMS-associated mutations impair enzyme activity and stability; tgds knockout causes craniofacial cartilage alterations and decreased sulfate glycosaminoglycan content
PMID: 41159851
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
Catel-Manzke syndromeOpen Targets
0.80Strong
neurodegenerative diseaseOpen Targets
0.45Moderate
genetic disorderOpen Targets
0.41Moderate
cleft palateOpen Targets
0.39Weak
spondylolisthesisOpen Targets
0.31Weak
musculoskeletal system diseaseOpen Targets
0.30Weak
hair colorOpen Targets
0.21Weak
head and neck malignant neoplasiaOpen Targets
0.15Weak
lysosomal storage diseaseOpen Targets
0.08Suggestive
Robin sequence - oligodactylyOpen Targets
0.07Suggestive
Robin sequence-oligodactyly syndromeOpen Targets
0.07Suggestive
alcohol drinkingOpen Targets
0.06Suggestive
cleft palate-lateral synechia syndromeOpen Targets
0.06Suggestive
anxiety disorderOpen Targets
0.06Suggestive
orofacial cleft 13Open Targets
0.06Suggestive
van der Woude syndromeOpen Targets
0.06Suggestive
isolated cleft palateOpen Targets
0.05Suggestive
Abruptio PlacentaeOpen Targets
0.05Suggestive
Ankyloblepharon filiforme adnatum - cleft palateOpen Targets
0.05Suggestive
ankyloblepharon filiforme adnatum-cleft palate syndromeOpen Targets
0.05Suggestive
Catel-Manzke syndromeUniProt
Pathogenic Variants11
NM_014305.4(TGDS):c.298G>T (p.Ala100Ser)Pathogenic
Catel-Manzke syndrome|Inborn genetic diseases|not provided|TGDS-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 100
NM_014305.4(TGDS):c.711TGT[1] (p.Val239del)Pathogenic
Catel-Manzke syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 239
NM_014305.4(TGDS):c.964G>A (p.Glu322Lys)Likely pathogenic
Catel-Manzke syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 322
NM_014305.4(TGDS):c.1014G>C (p.Trp338Cys)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 338
NM_014305.4(TGDS):c.313+1G>ALikely pathogenic
Catel-Manzke syndrome
β˜…β˜†β˜†β˜†2022
NM_014305.4(TGDS):c.305C>T (p.Thr102Ile)Likely pathogenic
Catel-Manzke syndrome
β˜…β˜†β˜†β˜†2021β†’ Residue 102
NM_014305.4(TGDS):c.457-2A>GLikely pathogenic
Catel-Manzke syndrome
β˜…β˜†β˜†β˜†2021
NM_014305.4(TGDS):c.269A>G (p.Glu90Gly)Pathogenic
Catel-Manzke syndrome
β˜†β˜†β˜†β˜†2014β†’ Residue 90
NM_014305.4(TGDS):c.294T>G (p.Phe98Leu)Pathogenic
Catel-Manzke syndrome
β˜†β˜†β˜†β˜†2014β†’ Residue 98
NM_014305.4(TGDS):c.892A>G (p.Asn298Asp)Pathogenic
Catel-Manzke syndrome
β˜†β˜†β˜†β˜†2014β†’ Residue 298
NM_014305.4(TGDS):c.700T>C (p.Tyr234His)Pathogenic
Catel-Manzke syndrome|not provided
β˜†β˜†β˜†β˜†2014β†’ Residue 234
View on ClinVar β†—
Related Genes
UXS1Shared pathway100%GMPPBProtein interaction85%COQ3Protein interaction85%GMPPAProtein interaction82%EIF2B3Protein interaction82%EIF2B5Protein interaction82%
Tissue Expression6 tissues
Liver
100%
Ovary
43%
Bone Marrow
35%
Lung
28%
Heart
24%
Brain
24%
Gene Interaction Network
Click a node to explore
TGDSUXS1GMPPBCOQ3GMPPAEIF2B3EIF2B5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O95455
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.18LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.79 [0.54–1.18]
RankingsWhere TGDS stands among ~20K protein-coding genes
  • #14,290of 20,598
    Most Researched20
  • #2,805of 5,498
    Most Pathogenic Variants11
  • #12,431of 17,882
    Most Constrained (LOEUF)1.18
Genes detectedTGDS
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
When rare meets common: Treatable genetic diseases are enriched in the general psychiatric population.
PMID: 38532509
Am J Med Genet A Β· 2024
1.00
2
A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia.
PMID: 40836090
Nature Β· 2025
0.90
3
Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.
PMID: 25480037
Am J Hum Genet Β· 2014
0.80
4
Oral lichen planus and thyroid gland diseases: possible associations.
PMID: 31366342
BMC Oral Health Β· 2019
0.70
5
Syntactic Errors in Older Adults with Depression.
PMID: 38138236
Medicina (Kaunas) Β· 2023
0.60