Biomaterial Database

[PRPP synthetase superactivity]. 1996

S Fujimori

Second Department of Internal Medicine, Teikyo University School of Medicine.

Phosphoribosylpyrophosphate(PRPP) synthetase(PRS) catalyzes the formation of PRPP from ATP and ribose-5-phosphate. PRPP is an important substrate for the synthesis of purine, pyrimidine, and pyridine dinucleotides. Human PRS exists as complex aggregates composed of the 34 kDa catalytic subunits(PRS1 and PRS2) and other 39 kDa component designated PRPP synthetase-associated protein (PAP39). PRS superactivity is an X-chromosome linked disorder, characterized by gout and uric acid overproduction resulting from accelerated synthesis of PRPP and purine nucleotides. Among the nearly 30 affected families identified to date, there are several families in which PRS superactivity with purine nucleotide feedback resistance are associated with neurodevelopmental abnormalities in addition to hyperuricemia and gout. Different nucleotide substitutions in the PRPS1 gene encoding PRS1 have identified in six unrelated affected families with purine nucleotide feedback-resistant PRS superactivity.

UI	MeSH Term	Description	Entries
D010754	Phosphoribosyl Pyrophosphate	The key substance in the biosynthesis of histidine, tryptophan, and purine and pyrimidine nucleotides.	Pyrophosphate, Phosphoribosyl
D011506	Proteins	Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein.	Gene Products, Protein,Gene Proteins,Protein,Protein Gene Products,Proteins, Gene
D011685	Purine Nucleotides	Purines attached to a RIBOSE and a phosphate that can polymerize to form DNA and RNA.	Nucleotides, Purine
D011686	Purine-Pyrimidine Metabolism, Inborn Errors	Dysfunctions in the metabolism of PURINES or PYRIMIDINES resulting from inborn genetic mutations that are inherited or acquired in utero.	Purine Pyrimidine Metabolism, Inborn Errors
D006073	Gout	Metabolic disorder characterized by recurrent acute arthritis, hyperuricemia and deposition of sodium urate in and around the joints, sometimes with formation of URIC ACID calculi.	Gouts
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012268	Ribose-Phosphate Pyrophosphokinase	An enzyme that catalyzes the formation of phosphoribosyl pyrophosphate from ATP and ribose-5-phosphate. EC 2.7.6.1.	PRPP Synthetase,Phosphoribosyl Pyrophosphate Synthetase,5-Phospho-alpha-D-Ribose 1-Diphosphate Synthetase,PRibPP Synthetase,Ribosephosphate Pyrophosphokinase,1-Diphosphate Synthetase, 5-Phospho-alpha-D-Ribose,5 Phospho alpha D Ribose 1 Diphosphate Synthetase,Pyrophosphate Synthetase, Phosphoribosyl,Pyrophosphokinase, Ribose-Phosphate,Pyrophosphokinase, Ribosephosphate,Ribose Phosphate Pyrophosphokinase,Synthetase, 5-Phospho-alpha-D-Ribose 1-Diphosphate,Synthetase, PRPP,Synthetase, Phosphoribosyl Pyrophosphate
D014527	Uric Acid	An oxidation product, via XANTHINE OXIDASE, of oxypurines such as XANTHINE and HYPOXANTHINE. It is the final oxidation product of purine catabolism in humans and primates, whereas in most other mammals URATE OXIDASE further oxidizes it to ALLANTOIN.	2,6,8-Trihydroxypurine,Ammonium Acid Urate,Monosodium Urate,Monosodium Urate Monohydrate,Potassium Urate,Sodium Acid Urate,Sodium Acid Urate Monohydrate,Sodium Urate,Sodium Urate Monohydrate,Trioxopurine,Urate,Acid Urate, Ammonium,Acid Urate, Sodium,Acid, Uric,Monohydrate, Monosodium Urate,Monohydrate, Sodium Urate,Urate Monohydrate, Monosodium,Urate Monohydrate, Sodium,Urate, Ammonium Acid,Urate, Monosodium,Urate, Potassium,Urate, Sodium,Urate, Sodium Acid
D014960	X Chromosome	The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.	Chromosome, X,Chromosomes, X,X Chromosomes