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Proteintech
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Immunogen sequence: MPNIKIFSG SSHQDLSQKI ADRLGLELGK VVTKKFSNQE TCVEIGESVR GEDVYIVQSG CGEINDNLME LLIMINACKI ASASRVTAVI PCFPYARQDK KDKSRAPISA KLVANMLSVA GADHIITMDL HASQIQGFFD IPVDNLYAEP AVLKWIRENI SEWRNCTIVS PDAGGAKRVT SIADRLNVDF ALIHKERKKA NEVDRMVLVG DVKDRVAILV DDMADTCGTI CHAADKLLSA GATRVYAILT HGIFSGPAIS RINNACFEAV VVTNTIPQED KMKHCSKIQV IDISMILAEA IRRTHNGESV SYLFSHVPL (1-318 aa encoded by BC001605 )
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) P60891, (Mouse) Q9D7G0, (Rat) P60892
Entrez Gene ID: (Human) 5631, (Mouse) 19139, (Rat) 29562