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Literature summary for 2.4.2.8 extracted from

  • Wu, C.H.; Lai, H.M.; Yang, M.C.; Liaw, C.C.; Chang, S.J.; Ko, Y.C.; Chen, C.J.
    Identification of a new single-nucleotide mutation on the hypoxanthine-guanine phosphoribosyltransferase gene from 983 cases with gout in Taiwan (2007), J. Rheumatol., 34, 794-797.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
gene HPRT, DNA and amino acid sequence determination Homo sapiens

Protein Variants

Protein Variants Comment Organism
D31E identification of another genetic variation within the gout-affected population in Taiwan with mutation on exon 2 with T to G transition at cDNA base 93 resulting in a change from aspartic acid to glutamic acid at position 31 Homo sapiens
additional information determination of the frequency of HPRT deficiency within the gout-affected population in Taiwan, overview Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens enzyme-deficiency is involved in development of gout ?
-
?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
gene HPRT
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information enzyme-deficiency is involved in development of gout Homo sapiens ?
-
?

Synonyms

Synonyms Comment Organism
HPRT
-
Homo sapiens
hypoxanthine-guanine phosphoribosyltransferase
-
Homo sapiens