| D007041 |
Hypoxanthine Phosphoribosyltransferase |
An 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. |
Guanine Phosphoribosyltransferase,HPRT,Hypoxanthine-Guanine Phosphoribosyltransferase,IMP Pyrophosphorylase,HGPRT,HPRTase,Hypoxanthine Guanine Phosphoribosyltransferase,Phosphoribosyltransferase, Guanine,Phosphoribosyltransferase, Hypoxanthine,Phosphoribosyltransferase, Hypoxanthine-Guanine,Pyrophosphorylase, IMP |
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| D007042 |
Hypoxanthines |
Purine bases related to hypoxanthine, an intermediate product of uric acid synthesis and a breakdown product of adenine catabolism. |
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| D011685 |
Purine Nucleotides |
Purines attached to a RIBOSE and a phosphate that can polymerize to form DNA and RNA. |
Nucleotides, Purine |
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| D011686 |
Purine-Pyrimidine Metabolism, Inborn Errors |
Dysfunctions in the metabolism of PURINES or PYRIMIDINES resulting from inborn genetic mutations that are inherited or acquired in utero. |
Purine Pyrimidine Metabolism, Inborn Errors |
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| D002478 |
Cells, Cultured |
Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others. |
Cultured Cells,Cell, Cultured,Cultured Cell |
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| D005347 |
Fibroblasts |
Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules. |
Fibroblast |
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| D005561 |
Formates |
Derivatives of formic acids. Included under this heading are a broad variety of acid forms, salts, esters, and amides that are formed with a single carbon carboxy group. |
Formic Acids,Acids, Formic |
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| D006147 |
Guanine |
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| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
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| D000225 |
Adenine |
A purine base and a fundamental unit of ADENINE NUCLEOTIDES. |
Vitamin B 4,4, Vitamin B,B 4, Vitamin |
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