TGDS Chromosome 13
TDP-glucose 4,6-dehydratase
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What This Gene Does
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]
Gene Info
Gene Group
Short chain dehydrogenase/reductase superfamily
Locus Type
gene with protein product
Location
13q32.1
Ensembl
ENSG00000088451
Associated Conditions (3)
Catel-Manzke syndrome
Inborn genetic diseases
TGDS-related disorder
Key Variants
RS727502809
Conflicting classifications of pathogenicity
Catel-Manzke syndrome, Catel-Manzke syndrome
Health Risk
RS1888779255
Likely pathogenic
Catel-Manzke syndrome, Catel-Manzke syndrome
Health Risk
RS1889172738
Likely pathogenic
Catel-Manzke syndrome, Catel-Manzke syndrome
Health Risk
RS2501948490
Likely pathogenic
Health Risk
RS775273838
Likely pathogenic
Catel-Manzke syndrome, Catel-Manzke syndrome
Health Risk
RS724160004
Pathogenic
Catel-Manzke syndrome, Catel-Manzke syndrome
Health Risk
RS724160005
Pathogenic
Catel-Manzke syndrome, Catel-Manzke syndrome
Health Risk
RS727502808
Pathogenic
Catel-Manzke syndrome, Catel-Manzke syndrome
Health Risk
RS140430952
Pathogenic/Likely pathogenic
Catel-Manzke syndrome, Inborn genetic diseases, TGDS-related disorder
Health Risk
RS544436734
Pathogenic/Likely pathogenic
Catel-Manzke syndrome, Catel-Manzke syndrome
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS727502809 | Health Risk | Conflicting classifications of pathogenicity | Catel-Manzke syndrome, Catel-Manzke syndrome |
| RS1888779255 | Health Risk | Likely pathogenic | Catel-Manzke syndrome, Catel-Manzke syndrome |
| RS1889172738 | Health Risk | Likely pathogenic | Catel-Manzke syndrome, Catel-Manzke syndrome |
| RS2501948490 | Health Risk | Likely pathogenic | — |
| RS775273838 | Health Risk | Likely pathogenic | Catel-Manzke syndrome, Catel-Manzke syndrome |
| RS724160004 | Health Risk | Pathogenic | Catel-Manzke syndrome, Catel-Manzke syndrome |
| RS724160005 | Health Risk | Pathogenic | Catel-Manzke syndrome, Catel-Manzke syndrome |
| RS727502808 | Health Risk | Pathogenic | Catel-Manzke syndrome, Catel-Manzke syndrome |
| RS140430952 | Health Risk | Pathogenic/Likely pathogenic | Catel-Manzke syndrome, Inborn genetic diseases, TGDS-related disorder |
| RS544436734 | Health Risk | Pathogenic/Likely pathogenic | Catel-Manzke syndrome, Catel-Manzke syndrome |