Background: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.
仕様
Synonyms:ARTS,CMTX5,Deafness 2 perceptive congenital,Deafness X linked 2 perceptive congenital,DFN2,DFNX1,EC 2.7.6.1,KIAA0967,Phosphoribosyl pyrophosphate synthase I,Phosphoribosyl pyrophosphate synthetase I,PPRibP,Prps1,PRPS1,PRS I ,PRS-I,PRSI,Ribose phosphate pyrophosphokinase I ,Ribose-phosphate pyrophosphokinase 1
Host:Rabbit
Reactivity:Human,Mouse,Rat
Applications:WB
Concentration:1mg/ml
Immunogen:A synthetic peptide of human PRPS1
Purification Method:Affinity purification
Clonality:Polyclonal
Conjugation:Unconjugated
Buffer:Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.