Human GALK1 Recombinant Protein (RPPB2537)
- SKU:
- RPPB2537
- Product Type:
- Recombinant Protein
- Species:
- Human
- Uniprot:
- P51570
- Research Area:
- Enzymes
Description
| Product Name: | Human GALK1 Recombinant Protein |
| Product Code: | RPPB2537 |
| Size: | 20µg |
| Species: | Human |
| Target: | GALK1 |
| Synonyms: | Galactose kinase, GK1, GALK, EC 2.7.1.6, GALK1. |
| Source: | Escherichia Coli |
| Physical Appearance: | Sterile filtered colorless solution. |
| Formulation: | GALK1 Human (0.5mg/ml) solution containing 20% glycerol 0.1M NaCl and 1mM DTT. |
| 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 95.0% as determined by SDS-PAGE. |
| Amino Acid Sequence: | MGSSHHHHHH SSGLVPRGSH MAALRQPQVA ELLAEARRAF REEFGAEPEL AVSAPGRVNL IGEHTDYNQG LVLPMALELM TVLVGSPRKD GLVSLLTTSE GADEPQRLQF PLPTAQRSLE PGTPRWANYV KGVIQYYPAA PLPGFSAVVV SSVPLGGGLS SSASLEVATY TFLQQLCPDS GTIAARAQVC QQAEHSFAGM PCGIMDQFIS LMGQKGHALL IDCRSLETSL VPLSDPKLAV LITNSNVRHS LASSEYPVRR RQCEEVARAL GKESLREVQL EELEAARDLV SKEGFRRARH VVGEIRRTAQ AAAALRRGDY RAFGRLMVES HRSLRDDYEV SCPELDQLVE AALAVPGVYG SRMTGGGFGG CTVTLLEASA APHAMRHIQE HYGGTATFYL SQAADGAKVL CL |
GALK1 enzyme is needed in the first step of the galactose metabolism pathway. (ATP + D-galactose = ADP + alpha-D-galactose 1-phosphate). GALK1 deficinecy lead galactosemia II which is an autosomal recessive deficiency known by congenital cataracts during infancy and presenile cataracts in the adult population. The cataracts are secondary to accumulation of galactitol in the lenses.
GALK1 Recombinant Human produced in E.Coli is a single, non-glycosylated polypeptide chain containing 412 amino acids (1-392 a.a.) and having a molecular mass of 44.4 kDa. The GALK1 is fused to a 20 amino acid His-Tag at N-terminus and purified by proprietary chromatographic techniques.
| UniProt Protein Function: | GALK1: Major enzyme for galactose metabolism. Defects in GALK1 are the cause of galactosemia II (GALCT2). Galactosemia II is an autosomal recessive deficiency characterized by congenital cataracts during infancy and presenile cataracts in the adult population. The cataracts are secondary to accumulation of galactitol in the lenses. Belongs to the GHMP kinase family. GalK subfamily. |
| UniProt Protein Details: | Protein type:Kinase, other; Carbohydrate Metabolism - galactose; EC 2.7.1.6; Carbohydrate Metabolism - amino sugar and nucleotide sugar Chromosomal Location of Human Ortholog: 17q24 Cellular Component: cytoplasm; cytosol; membrane Molecular Function:ATP binding; galactokinase activity; galactose binding Biological Process: galactose catabolic process; galactose metabolic process Disease: Galactokinase Deficiency |
| NCBI Summary: | Galactokinase is a major enzyme for the metabolism of galactose and its deficiency causes congenital cataracts during infancy and presenile cataracts in the adult population. [provided by RefSeq, Jul 2008] |
| UniProt Code: | P51570 |
| NCBI GenInfo Identifier: | 1730187 |
| NCBI Gene ID: | 2584 |
| NCBI Accession: | P51570.1 |
| UniProt Secondary Accession: | P51570,B2RC07, B4E1G6, |
| UniProt Related Accession: | P51570 |
| Molecular Weight: | 45,358 Da |
| NCBI Full Name: | Galactokinase |
| NCBI Synonym Full Names: | galactokinase 1 |
| NCBI Official Symbol: | GALK1�� |
| NCBI Official Synonym Symbols: | GK1; GALK; HEL-S-19�� |
| NCBI Protein Information: | galactokinase |
| UniProt Protein Name: | Galactokinase |
| UniProt Synonym Protein Names: | Galactose kinase |
| UniProt Gene Name: | GALK1�� |
| UniProt Entry Name: | GALK1_HUMAN |
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