Literature summary for 2.4.2.8 extracted from

Ea, H.K.; Bardin, T.; Jinnah, H.A.; Aral, B.; Liote, F.; Ceballos-Picot, I.
Severe gouty arthritis and mild neurologic symptoms due to F199C, a newly identified variant of the hypoxanthine guanine phosphoribosyltransferase (2009), Arthritis Rheum., 60, 2201-2204.

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Cloned(Commentary)

Cloned (Comment)	Organism
gene hprt, sequencing of wild-type and mutant enzymes	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
F199C	a naturally occuring mutation T596G, leads to 8% residual HPRT activity and causes juvenile-onset, severe gouty arthritis, nephrolithiasis, and mild neurologic symptoms. Adenine phosphoribosyltransferase, APRT, EC 2.4.2.7, in erythrocytes from subjects with HPRT deficiency is typically increased about 23fold compared with controls. Modeling of the mutated protein for prediction of the mechanisms of partial enzymatic activity	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P00492	gene HPRT	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
erythrocyte	-	Homo sapiens	-

Specific Activity [micromol/min/mg]

Specific Activity Minimum [µmol/min/mg]	Specific Activity Maximum [µmol/min/mg]	Comment	Organism
0.00016	-	F199C mutant erythrocytes	Homo sapiens
0.0002	0.00029	wild-type erythrocytes	Homo sapiens

Subunits

Subunits	Comment	Organism
dimer	residues 198-204 are involved in the largest dimer interface	Homo sapiens

Synonyms

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

General Information

General Information	Comment	Organism
malfunction	a deficiency in HPRT activity leads to overproduction of uric acid, hyperuricemia, with gouty arthritis, nephrolithiasis, and mild neurologic symptoms. According to the degree of enzymatic deficiency, a large spectrum of neurologic features can also be observed, ranging from mild or no neurologic involvement to complete Lesch-Nyhan disease	Homo sapiens

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Release 2023.1 (January 2023)