TGDS

Chr 13q32.1

TDP-glucose 4,6-dehydratase

Aliases:: TDPGD, SDR2E1
MANE:: ENST00000261296.7

OMIM: 616146 ↗NCBI: 23483 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

TGDS · O95455

v62025-08-01

Predicted Aligned Error matrix for TGDS — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

94.3/ 100

Very high

350 residues

Confidence breakdown

Very high(≥ 90)92%
Confident(70–90)4%
Low(50–70)1%
Very low(< 50)4%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Clefting
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Limb disorders
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Catel-Manzke syndrome
0.79
neurodegenerative disease
0.45
hereditary disease
0.41
cleft palate
0.39
spondylolisthesis
0.29
musculoskeletal system disorder
0.29
hair color
0.12
head and neck cancer
0.12
amelogenesis imperfecta
0.10
Hypomaturation amelogenesis imperfecta
0.10

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

UDP-D-glucose 4,6-dehydratase

UDP-glucose 4,6-dehydratase that converts UDP-glucose into UDP-4-keto-6-deoxyglucose, and which is required for glycosaminoglycan biosynthesis and skeletal development (PubMed:40836090). UDP-4-keto-6-deoxyglucose is a mimic of the reaction intermediate of UXS1 and acts as an enzyme-rescue metabolite to promote the completion of UXS1 catalytic cycle when NAD(+) levels are low (PubMed:40836090). Under low NAD(+) conditions, UXS1 forms an inactive UDP-4-ketoxylose intermediate bound to NADH, impairing the synthesis of specific glycans that are essential for skeletal development (PubMed:40836090). UDP-4-keto-6-deoxyglucose is used by the inactive NADH-bound UXS1 to produce UDP-6-deoxyglucose and NAD(+) within the catalytic pocket of UXS1, regenerating the essential cofactor NAD(+) (PubMed:40836090)