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hypoxantínfosforibozyltransferáza

  1. Subject h.hypoxantínfosforibozyltransferáza
    Subject h.Hypoxanthine Phosphoribosyltransferase
    Entry termsHPRT
    guanínfosforibozyltransferáza
    hypoxantínguanínfosforibozyltransferáza
    IMP-pyrofosforyláza
    English X referencesGuanine Phosphoribosyltransferase
    HPRT
    Hypoxanthine-Guanine Phosphoribosyltransferase
    IMP Pyrophosphorylase
    Scope note in EnglishAn enzyme that catalyzes the conversion of 5-phosphoribosyl-1-pyrophosphate and hypoxanthine, guanine, or MERCAPTOPURINE to the corresponding 5'-mononucleotides and pyrophosphate. The enzyme is important in purine biosynthesis as well as central nervous system functions. Complete lack of enzyme activity is associated with the LESCH-NYHAN SYNDROME, while partial deficiency results in overproduction of uric acid. EC 2.4.2.8.
    See also reference (FX) in Slovak dna (choroba)
    Leschov-Nyhanov syndróm
    See also reference (FX) in English Gout
    Lesch-Nyhan Syndrome
    Links (1) - ARTICLES
    (2) - MeSH descriptor
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Number of the records: 1  

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