TGDS

TDP-glucose 4,6-dehydratase

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]

Known Variants84 total

rsidPosition (GRCh37)AllelesClassClinVar
rs76167172813:95,227,039T/C—likely benign
rs53341710513:95,227,043G/A—benign
rs213950976313:95,227,050G/A—uncertain significance
rs213950977213:95,227,055A/G—uncertain significance
rs250194849013:95,227,075C/G—likely pathogenic
rs159443485413:95,227,093T/C—likely benign
rs144752008613:95,227,114G/A—likely benign
rs374210713:95,227,340C/T—benign
rs14122284513:95,228,593A/G—likely benign
rs188859801013:95,228,606C/A—uncertain significance
rs72416000513:95,228,658T/Cmissense variantpathogenic
rs77525396413:95,228,667T/G—uncertain significance
rs250195690613:95,229,625C/T—uncertain significance
rs54623713613:95,229,675C/G—uncertain significance
rs11640356813:95,229,697A/G—benign
rs7354662313:95,229,735A/G—benign
rs37377298213:95,230,239C/A—likely benign
rs75725433313:95,230,255A/T—uncertain significance
rs250195947013:95,230,291C/T—uncertain significance
rs250195976113:95,230,343T/C—likely benign
rs14378087213:95,230,370A/C—likely benign
rs54443673413:95,230,384A/Gmissense variantpathogenic
rs76641384413:95,230,399T/G—uncertain significance
rs1694994013:95,230,877G/A—benign
rs74670483913:95,230,970T/C—likely benign
rs37533516113:95,230,976T/C—likely benign
rs142349289413:95,231,001T/C—likely benign
rs956163613:95,231,235C/T—benign
rs227564813:95,231,981T/C—benign
rs128536801513:95,232,167G/A—uncertain significance
rs213951901013:95,232,181A/C—uncertain significance
rs250196882213:95,233,331C/T—likely benign
rs20064328213:95,233,336A/G—likely benign
rs137667818113:95,233,346T/G—uncertain significance
rs37048453313:95,233,353G/C—uncertain significance
rs213952170513:95,233,400G/T—uncertain significance
rs250196925513:95,233,409T/G—uncertain significance
rs77286805713:95,233,419G/C—uncertain significance
rs188877925513:95,233,445T/C—likely pathogenic
rs955640213:95,233,607G/A—benign
rs477380113:95,235,175T/C—benign
rs250197475613:95,235,329A/G—likely benign
rs77185679113:95,235,339T/G—likely benign
rs250197498613:95,235,365C/A—uncertain significance
rs75908768513:95,235,399C/T—likely benign
rs76489011313:95,235,415T/C—uncertain significance
rs18983814813:95,235,457T/C—uncertain significance
rs15027174613:95,235,477T/C—likely benign
rs11542367113:95,235,557A/G—benign
rs11240168213:95,235,626A/T—benign
rs448987313:95,242,527T/C——
rs188917273813:95,243,106C/T—likely pathogenic
rs14713924013:95,243,112T/A—uncertain significance
rs77527383813:95,243,115G/A—likely pathogenic
rs14043095213:95,243,122C/Tmissense variantpathogenic
rs6174168513:95,243,123G/A—benign
rs72750280813:95,243,126A/Cmissense variantpathogenic
rs75421451013:95,243,134G/T—uncertain significance
rs75995237613:95,243,135T/C—likely benign
rs72416000413:95,243,151T/Cmissense variantpathogenic
rs159445594713:95,243,156T/C—likely benign
rs250199718713:95,243,205A/T—likely benign
rs930197913:95,243,270G/A—benign
rs20194219013:95,244,490C/T—benign
rs76440145713:95,244,537A/T—uncertain significance
rs213954451713:95,244,548T/A—uncertain significance
rs37771716213:95,244,583G/C—likely benign
rs77335020713:95,246,112T/G—uncertain significance
rs76072038013:95,246,122T/C—likely benign
rs125018703713:95,246,145C/T—uncertain significance
rs14447826813:95,246,151T/C—likely benign
rs142043278413:95,246,165T/C—likely benign
rs111237013:95,246,440T/C—benign
rs11392515713:95,248,289C/T—benign
rs125750968513:95,248,302T/G—uncertain significance
rs3499113213:95,248,348C/T—benign
rs93700378213:95,248,351C/G—uncertain significance
rs77100238213:95,248,354G/A—uncertain significance
rs74574871213:95,248,361C/G—uncertain significance
rs20209767313:95,248,366G/A—uncertain significance
rs18643856913:95,248,379C/T—benign
rs36849909913:95,248,400C/T—likely benign
rs229805813:95,248,566C/T—benign
rs7890581913:95,248,751C/T—benign

Gene information from NCBI Gene. Variant classifications from ClinVar.