Recombinant Human Ribose-phosphate pyrophosphokinase 1 (PRPS1)

Uniprot Id

P60891

Target Species

Human

Target Name

PRPS1

Target Full Name

Ribose-phosphate pyrophosphokinase 1

Target Function

Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis.

Target Involvement

Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity); Charcot-Marie-Tooth disease, X-linked recessive, 5 (CMTX5); ARTS syndrome (ARTS); Deafness, X-linked, 1 (DFNX1)

Target Protein Families

Ribose-phosphate pyrophosphokinase family

Target Research Area

Cell Biology

Target 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_HUMAN; PRS I ; PRS-I; PRSI; Ribose phosphate pyrophosphokinase I ; Ribose-phosphate pyrophosphokinase 1

Target 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.