TGDS
entrez
23483
canonical
uniprot
O95455
canonical
ensembl
ENSG00000088451
resolver
ensp
ENSP00000261296
resolver
enst
ENST00000261296
resolver
genesymbol
TGDS
resolver
hgnc
HGNC:20324
resolver
uniprot
Q05DQ3
resolver
uniprot
Q2TU31
resolver
uniprot
Q5T3Z2
resolver
uniprot
Q9H1T9
resolver
uniprot_entry
TGDS_HUMAN
resolver
uniprot_sec
Q05DQ3
resolver
uniprot_sec
Q2TU31
resolver
uniprot_sec
Q5T3Z2
resolver
uniprot_sec
Q9H1T9
resolver
amino_acid_sequence
MSAACWEEPWGLPGGFAKRVLVTGGAGFIASHMIVSLVEDYPNYMIINLDKLDYCASLKNLETISNKQNYKFIQGDICDSHFVKLLFETEKIDIVLHFAAQTHVDLSFVRAFEFTYVNVYGTHVLVSAAHEARVEKFIYVSTDEVYGGSLDKEFDESSPKQPTNPYASSKAAAECFVQSYWEQYKFPVVITRSSNVYGPHQYPEKVIPKFISLLQHNRKCCIHGSGLQTRNFLYATDVVEAFLTVLKKGKPGEIYNIGTNFEMSVVQLAKELIQLIKETNSESEMENWVDYVNDRPTNDMRYPMKSEKIHGLGWRPKVPWKEGIKKTIEWYRENFHNWKNVEKALEPFPV
uniprot
proteins
disease_involvement
DISEASE: Catel-Manzke syndrome (CATMANS) [MIM:616145]: A syndrome characterized by Pierre Robin sequence and a unique form of bilateral hyperphalangy causing a clinodactyly of the index finger. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). {ECO:0000269|PubMed:25480037, ECO:0000269|PubMed:26366375, ECO:0000269|PubMed:28422407, ECO:0000269|PubMed:31769200, ECO:0000269|PubMed:31833187, ECO:0000269|PubMed:40836090}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
4.2.1.76
uniprot
proteins
function
FUNCTION: UDP-glucose 4,6-dehydratase that converts UDP-glucose into UDP-4-keto-6-deoxyglucose, and which is required for glycosaminoglycan biosynthesis and skeletal development (PubMed:40836090). UDP-4-keto-6-deoxyglucose is a mimic of the reaction intermediate of UXS1 and acts as an enzyme-rescue metabolite to promote the completion of UXS1 catalytic cycle when NAD(+) levels are low (PubMed:40836090). Under low NAD(+) conditions, UXS1 forms an inactive UDP-4-ketoxylose intermediate bound to NADH, impairing the synthesis of specific glycans that are essential for skeletal development (PubMed:40836090). UDP-4-keto-6-deoxyglucose is used by the inactive NADH-bound UXS1 to produce UDP-6-deoxyglucose and NAD(+) within the catalytic pocket of UXS1, regenerating the essential cofactor NAD(+) (PubMed:40836090). {ECO:0000269|PubMed:40836090}.
uniprot
proteins
mass_dalton
40214
uniprot
proteins
protein_family
NAD(P)-dependent epimerase/dehydratase family
uniprot
proteins
protein_family
dTDP-glucose dehydratase subfamily
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057823
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
25480037
uniprot
proteins
pubmed
26366375
uniprot
proteins
pubmed
28422407
uniprot
proteins
pubmed
31769200
uniprot
proteins
pubmed
31833187
uniprot
proteins
pubmed
40836090
uniprot
proteins
sequence_length
350
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000269|PubMed:25480037}. Golgi apparatus {ECO:0000269|PubMed:40836090}.
uniprot
proteins