Statements (54)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
classic galactosemia
|
| gptkbp:discoveredBy |
gptkb:Luis_Leloir
|
| gptkbp:encodes |
galactose-1-phosphate uridylyltransferase protein
|
| gptkbp:Entrez_Gene_ID |
2592
|
| gptkbp:enzymeCommissionNumber |
2.7.7.12
|
| gptkbp:expressedIn |
liver
erythrocytes |
| gptkbp:fullName |
galactose-1-phosphate uridylyltransferase
|
| gptkbp:function |
catalyzes conversion of galactose-1-phosphate and UDP-glucose to UDP-galactose and glucose-1-phosphate
|
| gptkbp:HGNC_ID |
gptkb:GALT
|
| https://www.w3.org/2000/01/rdf-schema#label |
GALT
|
| gptkbp:locatedOnChromosome |
9p13
|
| gptkbp:mutationAssociatedWith |
gptkb:galactosemia
E340K K285N L195P N314D Q188R R148Q R148W R220Q R228C R231C R231H R333C R333D R333E R333F R333G R333H R333I R333K R333L R333M R333N R333P R333Q R333R R333S R333T R333V R333W R333Y R51Q S135L T138M Y209C |
| gptkbp:OMIM |
606999
|
| gptkbp:orthologInMouse |
gptkb:Galt
|
| gptkbp:orthologInYeast |
GAL7
|
| gptkbp:UniProtID |
P07902
|
| gptkbp:bfsParent |
gptkb:Galapagos_Time_(GALT)
|
| gptkbp:bfsLayer |
6
|