TGDS, Official Symbol TGDSprovided by HGNC Official Full Name TDP-glucose 4,6-dehydrataseprovided by HGNC Primary source HGNC:HGNC:20324 See related Ensembl:ENSG00000088451 MIM:616146; AllianceGenome:HGNC:20324 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TDPGD; SDR2E1; CATMANS Summary 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] Expression Ubiquitous expression in thyroid (RPKM 7.9), liver (RPKM 6.7) and 25 other tissues See more Orthologs mouse all