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Literature summary for 2.7.6.1 extracted from

  • Kim, H.J.; Sohn, K.M.; Shy, M.E.; Krajewski, K.M.; Hwang, M.; Park, J.H.; Jang, S.Y.; Won, H.H.; Choi, B.O.; Hong, S.H.; Kim, B.J.; Suh, Y.L.; Ki, C.S.; Lee, S.Y.; Kim, S.H.; Kim, J.W.
    Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5) (2007), Am. J. Hum. Genet., 81, 552-558.
    View publication on PubMedView publication on EuropePMC
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Cloned(Commentary)

Cloned (Comment) Organism
gene PRPS1, genomic structure, genotyping in European and Asian individuals Homo sapiens

Protein Variants

Protein Variants Comment Organism
E43D naturally occuring mutation causes the Rosenberg-Chutorian syndrome, the disease locus CMTX5 is situated on the chromosome band Xq21.32-q24 Homo sapiens
additional information mutations in PRPS1 cause hereditary peripheral neuropathy with hearing loss and optic neuropathy, more Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
D-ribose 5-phosphate + ATP Homo sapiens biosynthesis of purines and pyrimidines 5-phospho-alpha-D-ribose 1-diphosphate + AMP
-
 ?
additional information Homo sapiens the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis ?
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-
Homo sapiens P60891 gene PRPS1
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Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
D-ribose 5-phosphate + ATP biosynthesis of purines and pyrimidines Homo sapiens 5-phospho-alpha-D-ribose 1-diphosphate + AMP
-
 ?
additional information the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis Homo sapiens ?
-
 ?

Synonyms

Synonyms Comment Organism
phosphoribosyl pyrophosphate synthase enzyme
-
 Homo sapiens
phosphoribosyl pyrophosphate synthetase
-
 Homo sapiens