10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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20PubMed Papers
21Diseases
0Drugs
11Pathogenic Variants
CLINICALOMIM Disease Gene
DATA QUALITYβ Experimental GO Evidenceβ Swiss-Prot Reviewed
dTDP-glucose 4,6-dehydratase activityprotein bindingglycosaminoglycan biosynthetic processendoplasmic reticulumCatel-Manzke syndromeneurodegenerative diseasegenetic disordercleft palate
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.
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: 408360902
Homozygous and compound heterozygous TGDS mutations cause Catel-Manzke syndrome; identified six different disease-causing mutations; loss of function is the underlying mechanism
PMID: 254800373
TGDS pathogenic variants cause Catel-Manzke syndrome with variable phenotypes including mild hand malformations and disproportionate short stature, broadening the clinical spectrum
PMID: 317692004
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: 41159851β Limited data available β This gene has 4 indexed publications. Summary and analysis may be incomplete.
Catel-Manzke syndromeOpen Targets
neurodegenerative diseaseOpen Targets
genetic disorderOpen Targets
spondylolisthesisOpen Targets
musculoskeletal system diseaseOpen Targets
head and neck malignant neoplasiaOpen Targets
lysosomal storage diseaseOpen Targets
Robin sequence - oligodactylyOpen Targets
Robin sequence-oligodactyly syndromeOpen Targets
alcohol drinkingOpen Targets
cleft palate-lateral synechia syndromeOpen Targets
anxiety disorderOpen Targets
orofacial cleft 13Open Targets
van der Woude syndromeOpen Targets
isolated cleft palateOpen Targets
Abruptio PlacentaeOpen Targets
Ankyloblepharon filiforme adnatum - cleft palateOpen Targets
ankyloblepharon filiforme adnatum-cleft palate syndromeOpen Targets
Catel-Manzke syndromeUniProt
NM_014305.4(TGDS):c.298G>T (p.Ala100Ser)Pathogenic
Catel-Manzke syndrome|Inborn genetic diseases|not provided|TGDS-related disorder
β
β
ββ2025β Residue 100
NM_014305.4(TGDS):c.711TGT[1] (p.Val239del)Pathogenic
Catel-Manzke syndrome
β
βββ2025β Residue 239
NM_014305.4(TGDS):c.964G>A (p.Glu322Lys)Likely pathogenic
Catel-Manzke syndrome
β
βββ2025β Residue 322
NM_014305.4(TGDS):c.1014G>C (p.Trp338Cys)Likely pathogenic
not provided
β
βββ2024β Residue 338
NM_014305.4(TGDS):c.313+1G>ALikely pathogenic
Catel-Manzke syndrome
β
βββ2022
NM_014305.4(TGDS):c.305C>T (p.Thr102Ile)Likely pathogenic
Catel-Manzke syndrome
β
βββ2021β Residue 102
NM_014305.4(TGDS):c.457-2A>GLikely pathogenic
Catel-Manzke syndrome
β
βββ2021
NM_014305.4(TGDS):c.269A>G (p.Glu90Gly)Pathogenic
Catel-Manzke syndrome
ββββ2014β Residue 90
NM_014305.4(TGDS):c.294T>G (p.Phe98Leu)Pathogenic
Catel-Manzke syndrome
ββββ2014β Residue 98
NM_014305.4(TGDS):c.892A>G (p.Asn298Asp)Pathogenic
Catel-Manzke syndrome
ββββ2014β Residue 298
NM_014305.4(TGDS):c.700T>C (p.Tyr234His)Pathogenic
Catel-Manzke syndrome|not provided
ββββ2014β Residue 234