Product Data | |
Description | Recombinant protein of human galactose-1-phosphate uridylyltransferase (GALT) |
Species | Human |
Expression Host | HEK293T |
Expression cDNA Clone or AA Sequence | Recombinant protein was produced with TrueORF clone, RC202206. Click on the TrueORF clone link to view cDNA and protein sequences. |
Tag | C-Myc/DDK |
Predicted MW | 43.2 kDa |
Concentration | >50 ug/mL as determined by microplate BCA method |
Purity | > 80% as determined by SDS-PAGE and Coomassie blue staining |
Buffer | 25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol |
Reference Data | |
Locus ID | 2592 |
Refseq Size | 1407 |
Cytogenetics | 9p13.3 |
Refseq ORF | 1137 |
Synonyms | galactose-1-phosphate uridyl transferase; galactose-1-phosphate uridylyltransferase; OTTHUMP00000021298 |
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] |
Protein Families | Druggable Genome |
Protein Pathways | Amino sugar and nucleotide sugar metabolism, Galactose metabolism, Metabolic pathways |
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