Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: 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
Gene Aliases: 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
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