catalog number :
MBS143204
products type :
Recombinant Protein
products full name :
Recombinant Human Galactose-1-Phosphate Uridylyltransferase
products short name :
Galactose-1-Phosphate Uridylyltransferase
products name syn :
GALT Human; Galactose-1-Phosphate Uridylyltransferase Human Recombinant; Galactose-1-phosphate uridylyltransferase; Gal-1-P uridylyltransferase; UDP-glucose--hexose-1-phosphate uridylyltransferase; GALT
other names :
galactose-1-phosphate uridylyltransferase isoform 1; Galactose-1-phosphate uridylyltransferase; galactose-1-phosphate uridylyltransferase; UDP-glucose--hexose-1-phosphate uridylyltransferase; gal-1-P uridylyltransferase; galactose-1-phosphate uridyl transferase; galactose-1-phosphate uridylyltransferase; UDP-glucose--hexose-1-phosphate uridylyltransferase
products gene name :
GALT
other gene names :
GALT; GALT; Gal-1-P uridylyltransferase
uniprot entry name :
GALT_HUMAN
purity :
Greater than 85.0% as determined by SDS-PAGE.
form :
The GALT solution (0.25mg/ml) contains 20mM Tris-HCl buffer (pH 8.5), 0.2M NaCl and 10% glycerol. Sterile filtered colorless solution.
storage stability :
Store at 4 degree C if entire vial will be used within 2-4 weeks. Store, frozen at -20 degree C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA). Avoid multiple freeze-thaw cycles.
products categories :
ENZYMES; Enzymes; Transferase
products description :
Description: GALT Human Recombinant produced in E Coli is a single, non-glycosylated polypeptide chain containing 403 amino acids (1-379) and having a molecular mass of 45.9kDa.GALT is fused to a 24 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques. Introduction: Galactose-1-Phosphate Uridylyltransferase (GALT) catalyzes the 2nd step of the œLeloir pathway of galactose metabolism, specifically the conversion of UDP-glucose + galactose-1-phosphate to glucose-1-phosphate + UDP-galactose. The deficiency of the GALT enzyme results in typical galactosemia in humans and may be fatal in the newborn stage if lactose is not eliminated from the diet. Galactosemia pathophysiology has not been clearly defined.
ncbi acc num :
NP_000146.2
ncbi gb acc num :
NM_000155.3
ncbi mol weight :
31,107 Da
ncbi pathways :
Amino Sugar And Nucleotide Sugar Metabolism Pathway (82979); Amino Sugar And Nucleotide Sugar Metabolism Pathway (350); D-galactose Degradation V (Leloir Pathway) (1108782); Disease Pathway (530764); Galactose Catabolism Pathway (106219); Galactose Degradation, Leloir Pathway, Galactose = Alpha-D-glucose-1P (961175); Galactose Degradation, Leloir Pathway, Galactose = Alpha-D-glucose-1P (966887); Galactose Metabolism Pathway (82931); Galactose Metabolism Pathway (292); Glycogen Storage Diseases Pathway (1127581)
ncbi summary :
Galactose-1-phosphate uridyl transferase (GALT) catalyzes the second step of the Leloir pathway of galactose metabolism, namely the conversion of UDP-glucose + galactose-1-phosphate to glucose-1-phosphate + UDP-galactose. The absence of this enzyme results in classic galactosemia in humans and can be fatal in the newborn period if lactose is not removed from the diet. The pathophysiology of galactosemia has not been clearly defined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
uniprot summary :
GALT: Defects in GALT are the cause of galactosemia (GALCT). Galactosemia is an inherited disorder of galactose metabolism that causes jaundice, cataracts, and mental retardation. Belongs to the galactose-1-phosphate uridylyltransferase type 1 family. Protein type: Motility/polarity/chemotaxis; Carbohydrate Metabolism - amino sugar and nucleotide sugar; EC 2.7.7.12; Carbohydrate Metabolism - galactose; Transferase. Chromosomal Location of Human Ortholog: 9p13. Cellular Component: Golgi apparatus; cytosol. Molecular Function: zinc ion binding; UDP-glucose:hexose-1-phosphate uridylyltransferase activity. Biological Process: galactose catabolic process; carbohydrate metabolic process; UDP-glucose catabolic process; galactose metabolic process; pathogenesis. Disease: Galactosemia