TGDS

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]

Description

TDP-glucose 4,6-dehydratase

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Nucleoli, Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Potential drug targets
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)

Chromosome

13 (94574054 - 94596242)

Ensembl ID

ENSG00000088451  (ver. 103.38)

Orthologs

Mouse Tgds: ENSMUSG00000022130

UniProt

O95455

neXtProt

NX_O95455

Human splice variants
Mouse splice variants

Protein structure