Literature summary for 2.4.2.7 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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Protein Variants

Protein Variants	Comment	Organism
additional information	a naturally occuring mutation T596G leading to amino acid exchange F199C in hypoxanthine guanine phosphoribosyltransferase, HPRT, EC 2.4.2.8, with 92% reduced activity and a severe gouty arthritis phenotype, while the mutation or HPRT deficiency typically lead to a 2-3fold increased APRT activity in erythrocytes. Modeling of the mutated protein for prediction of the mechanisms of partial enzymatic activity	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

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
0.0004	0.0006	wild-type erythrocytes	Homo sapiens
0.00086	-	HPRT F199C mutant erythrocytes	Homo sapiens

Synonyms

Synonyms	Comment	Organism
APRT	-	Homo sapiens

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Release 2023.1 (January 2023)