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Antibody detects endogenous levels of total PRPS1.
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: deafness 2, perceptive, congenital; deafness, X-linked 2, perceptive, congenital; dJ1070B1.2 (phosphoribosyl pyrophosphate synthetase 1); Phosphoribosyl pyrophosphate synthase I; phosphoribosyl pyrophosphate synthetase I; PPRibP; PRS-I; ribose-phosphate diphosphokinase 1; Ribose-phosphate pyrophosphokinase 1
基因别名: 2310010D17Rik; ARTS; C76571; C76678; CMTX5; DFN2; DFNX1; PPRibP; Prps-1; PRPS1; PRS-I; PRSI
UniProt ID: (Human) B1ALA8, (Mouse) Q9D7G0, (Rat) P60892
Entrez Gene ID: (Human) 5631, (Mouse) 19139, (Rat) 29562