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Phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1)

Target: PRPS1L1
Molecular classification: Enzyme, Kinase

Overview

Phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1) is a testis-specific, intronless gene encoding an enzyme highly homologous to PRPS1 and PRPS2. It functions as a phosphoribosyl pyrophosphate synthetase/kinase, catalyzing the synthesis of phosphoribosylpyrophosphate (PRPP) from ribose-5-phosphate and ATP. PRPP is an essential metabolite for nucleotide biosynthesis. The enzyme is expressed predominantly in human testis and contributes to the conversion of pyrimidine, purine, or pyridine bases into ribonucleoside monophosphates. PRPS1L1 is structurally and functionally related to PRPS1/PRPS2, but its exact physiological relevance and pharmacological targeting outside of nucleotide metabolism remain unclear

Other names: Ribose-phosphate pyrophosphokinase 3PRPS3PRPSLPRPS1-like 1PRS-IIIphosphoribosyl pyrophosphate synthase IIIribose-phosphate diphosphokinase catalytic chain IIIribose-phosphate pyrophosphokinase IIIphosphoribosylpyrophosphate synthetase subunit III

Biological functions

Nucleotide biosynthesis (purine and pyrimidine synthesis)Synthesis of phosphoribosyl pyrophosphate (PRPP)Conversion of pyrimidine, purine, or pyridine bases to ribonucleoside monophosphates

Disease associations

Charcot-Marie-Tooth disease type 5Arts syndrome(No strong evidence for other diseases directly associated, but perturbations may affect nucleotide metabolism)

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