Human GALT Recombinant Protein (RPPB1669)
- SKU:
- RPPB1669
- Product Type:
- Recombinant Protein
- Species:
- Human
- Uniprot:
- P07902
- Research Area:
- Enzymes
Description
Product Name: | Human GALT Recombinant Protein |
Product Code: | RPPB1669 |
Size: | 10µg |
Species: | Human |
Target: | GALT |
Synonyms: | Galactose-1-phosphate uridylyltransferase, Gal-1-P uridylyltransferase, UDP-glucose--hexose-1-phosphate uridylyltransferase, GALT. |
Source: | Escherichia Coli |
Physical Appearance: | Sterile filtered colorless solution. |
Formulation: | The GALT solution (0.25mg/ml) contains 20mM Tris-HCl buffer (pH 8.5), 0.2M NaCl and 10% glycerol. |
Stability: | Store at 4°C if entire vial will be used within 2-4 weeks. Store, frozen at -20°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. |
Purity: | Greater than 85.0% as determined by SDS-PAGE. |
Amino Acid Sequence: | MGSSHHHHHH SSGLVPRGSH MGSHMSRSGT DPQQRQQASE ADAAAATFRA NDHQHIRYNP LQDEWVLVSA HRMKRPWQGQ VEPQLLKTVP RHDPLNPLCP GAIRANGEVN PQYDSTFLFD NDFPALQPDA PSPGPSDHPL FQAKSARGVC KVMCFHPWSD VTLPLMSVPE IRAVVDAWAS VTEELGAQYP WVQIFENKGA MMGCSNPHPH CQVWASSFLP DIAQREERSQ QAYKSQHGEP LLMEYSRQEL LRKERLVLTS EHWLVLVPFW ATWPYQTLLL PRRHVRRLPE LTPAERDDLA SIMKKLLTKY DNLFETSFPY SMGWHGAPTG SEAGANWNHW QLHAHYYPPL LRSATVRKFM VGYEMLAQAQ RDLTPEQAAE RLRALPEVHY HLGQKDRETA TIA |
Galactose-1-Phosphate Uridylyltransferase (GALT) catalyzes the 2nd step of the �Leloir 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.
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.
UniProt Protein Function: | 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. |
UniProt Protein Details: | Protein type:EC 2.7.7.12; Carbohydrate Metabolism - galactose; Carbohydrate Metabolism - amino sugar and nucleotide sugar; Motility/polarity/chemotaxis; Transferase Chromosomal Location of Human Ortholog: 9p13 Cellular Component: cytosol; Golgi apparatus Molecular Function:protein binding; UDP-glucose:hexose-1-phosphate uridylyltransferase activity Biological Process: galactose catabolic process; galactose metabolic process Disease: Galactosemia |
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 Code: | P07902 |
NCBI GenInfo Identifier: | 3183522 |
NCBI Gene ID: | 2592 |
NCBI Accession: | P07902.3 |
UniProt Secondary Accession: | P07902,Q14355, Q14356, Q14357, Q14358, Q14359, Q14360 Q14361, Q14363, Q14364, B4E097, E7ET32, |
UniProt Related Accession: | P07902 |
Molecular Weight: | 31,107 Da |
NCBI Full Name: | Galactose-1-phosphate uridylyltransferase |
NCBI Synonym Full Names: | galactose-1-phosphate uridylyltransferase |
NCBI Official Symbol: | GALT�� |
NCBI Protein Information: | galactose-1-phosphate uridylyltransferase |
UniProt Protein Name: | Galactose-1-phosphate uridylyltransferase |
UniProt Synonym Protein Names: | UDP-glucose--hexose-1-phosphate uridylyltransferase |
Protein Family: | Gallate transporter |
UniProt Gene Name: | GALT�� |
UniProt Entry Name: | GALT_HUMAN |