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Recombinant Human PRPS1

Cat.No.: PRPS1-30999TH
Product Overview: Recombinant full length Human PRPS1, expressed in Saccharomyces cerevisiae. 318 aas. MW 35kDa.
Description: This gene encodes an enzyme that catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for purine metabolism and nucleotide biosynthesis. Defects in this gene are a cause of phosphoribosylpyrophosphate synthetase superactivity, Charcot-Marie-Tooth disease X-linked recessive type 5 and Arts Syndrome. Two transcript variants encoding different isoforms have been found for this gene.
Form: Liquid
Purity: >90% by SDS-PAGE
Storage buffer: Preservative: NoneConstituents: 30% Glycerol, 0.5% Triton-X-100, 50mM HEPES, 30mM Glutathione, 100mM Sodium chloride, 1mM DTT, pH 7.5
Storage: Store at -20°C. Stable for 12 months at -20°C
Sequences of amino acids: MPNIKIFSGSSHQDLSQKIADRLGLELGKVVTKKFSNQET CVEIGESVRGEDVYIVQSGCGEINDNLMELLIMINACK IASASRVTAVIPCFPYARQDKKDKSRAPISAKLVANMLSV AGADHIITMDLHASQIQGFFDIPVDNLYAEPAVLKWIR ENISEWRNCTIVSPDAGGAKRVTSIADRLNVDFALIHKER KKANEVDRMVLVGDVKDRVAILVDDMADTCGTICHAAD KLLSAGATRVYAILTHGIFSGPAISRINNACFEAVVVTNTIPQEDKMKHCSKIQVIDISMILAEAIRRTHNGESVSYL FSHVPL
Sequence Similarities: Belongs to the ribose-phosphate pyrophosphokinase family.
Gene Name: PRPS1 phosphoribosyl pyrophosphate synthetase 1 [ Homo sapiens ]
Official Symbol: PRPS1
Synonyms: PRPS1; phosphoribosyl pyrophosphate synthetase 1; deafness, X linked 2, perceptive, congenital , DFN2; ribose-phosphate pyrophosphokinase 1; CMTX5; DFNX1; PRS I; ribose phosphate diphosphokinase 1;
Gene ID: 5631
mRNA Refseq: NM_001204402
Protein Refseq: NP_001191331
MIM: 311850
Uniprot ID: P60891
Chromosome Location: Xq21-q27
Pathway: 5-Phosphoribose 1-diphosphate biosynthesis, organism-specific biosystem; Metabolic pathways, organism-specific biosystem; Metabolism of carbohydrates, organism-specific biosystem; Nucleotide Metabolism, organism-specific biosystem; PRPP biosynthesis, ribose 5P =>
Function: ATP binding; kinase activity; magnesium ion binding; nucleotide binding; protein homodimerization activity;

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