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HPRT1 D194N tetramer [cytosol]
Stable Identifier
R-HSA-9734280
Type
Complex
Species
Homo sapiens
Compartment
cytosol
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases of nucleotide metabolism (Homo sapiens)
Nucleotide salvage defects (Homo sapiens)
Defective HPRT1 disrupts guanine and hypoxanthine salvage (Homo sapiens)
Defective HPRT1 does not convert guanine or hypoxanthine to GMP or IMP (Homo sapiens)
HPRT1 tetramer mutants [cytosol] (Homo sapiens)
HPRT1 D194N tetramer [cytosol] (Homo sapiens)
Participants
components
x 4
HPRT1 D194N [cytosol]
(Homo sapiens)
x 8
Mg2+ [cytosol]
Participates
as a member of
HPRT1 tetramer mutants [cytosol] (Homo sapiens)
Disease
Name
Identifier
Synonyms
Lesch-Nyhan syndrome
DOID:1919
Lesch - Nyhan syndrome, X-linked hyperuricemia, hypoxanthine guanine phosphoribosyltransferase deficiency, HG-PRT deficiency, deficiency of IMP pyrophosphorylase, Complete hypoxanthine-guanine phosphoribosyltransferase deficiency, Hypoxanthine-guanine phosphoribosyltransferase deficiency, Hypoxanthine-guanine-phosphoribosyltransferase deficiency
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