NP_001191331.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
ribose-phosphate pyrophosphokinase 1 isoform 2
NCBI Official Synonym Full Names
phosphoribosyl pyrophosphate synthetase 1
NCBI Official Synonym Symbols
ARTS; DFN2; PRSI; CMTX5; DFNX1; PRS-I; PPRibP [Similar Products]
NCBI Protein Information
ribose-phosphate pyrophosphokinase 1
UniProt Protein Name
Ribose-phosphate pyrophosphokinase 1
UniProt Synonym Protein Names
PPRibP; Phosphoribosyl pyrophosphate synthase I; PRS-I
UniProt Synonym Gene Names
NCBI Summary for PRPS1
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. [provided by RefSeq, Feb 2011]
UniProt Comments for PRPS1
Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis.
Research Articles on PRPS1
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Products associated with anti-PRPS1 antibody
Pathways associated with anti-PRPS1 antibody
Diseases associated with anti-PRPS1 antibody
Organs/Tissues associated with anti-PRPS1 antibody
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