TDP-Glucose 4,6-Dehydratase

Alternative Names

  • TGDS
  • Short-Chain Dehydrogenase/Reductase Family 2E, Member 1
  • SDR2E1
  • Growth-Inhibiting Protein 21

Associated Diseases

Catel-Manzke Syndrome
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OMIM Number

616146

NCBI Gene ID

23483

Uniprot ID

O95455

Length

22,220 bases

No. of Exons

13

Protein Name

dTDP-D-glucose 4,6-dehydratase

Molecular Mass

40214 Da

Amino Acid Count

350

Genomic Location

chr13:94,574,054-94,596,273

Gene Map Locus
13q32.1

Description

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. [From RefSeq]

Epidemiology in the Arab World

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