PA5-27749 targets PRPS1 in WB applications and shows reactivity with Human samples.
The PA5-27749 immunogen is a recombinant protein fragment corresponding to a region within amino acids 1 and 318 of PRPS1.
Store product as a concentrated solution. Centrifuge briefly prior to opening the vial. For short-term storage (1-2 weeks), product can be stored at 4°C. For long-term storage, aliquot and store product at -20° C or below, avioiding multiple freeze-thaw cycles.
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.
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Protein Aliases: CMTX5; congenital; deafness; deafness 2; deafness 2, perceptive, congenital; deafness, X-linked 2, perceptive, congenital; DFN2; DFNX1; dJ1070B1.2 (phosphoribosyl pyrophosphate synthetase 1); perceptive; Phosphoribosyl pyrophosphate synthase I; phosphoribosyl pyrophosphate synthetase I; PPRibP; PRS-I; PRSI; ribose-phosphate diphosphokinase 1; Ribose-phosphate pyrophosphokinase 1; X-linked 2
Gene Aliases: 2310010D17Rik; ARTS; C76571; C76678; CMTX5; DFN2; DFNX1; PPRibP; Prps-1; PRPS1; PRS-I; PRSI