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hypoxantínfosforibozyltransferáza

  1. Record numberd007041
    Date06.06.2025
    TypeM - MESH
    Topical termhypoxantínfosforibozyltransferáza
    Other termEnglish (Pseudonym) Guanine Phosphoribosyltransferase
    English (Pseudonym) HPRT
    English (Pseudonym) Hypoxanthine-Guanine Phosphoribosyltransferase
    English (Pseudonym) IMP Pyrophosphorylase
    Slovak (Pseudonym) HPRT
    Slovak (Pseudonym) guanínfosforibozyltransferáza
    Slovak (Pseudonym) hypoxantínguanínfosforibozyltransferáza
    Slovak (Pseudonym) IMP-pyrofosforyláza
    See also(Later heading) dna (choroba)
    (Skutočné meno) dna (choroba)
    (Skutočné meno) Leschov-Nyhanov syndróm
    (Later heading) Leschov-Nyhanov syndróm
    UDCD08.811.913.400.725.450
    NoteAn 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.
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