Literature summary for 2.7.6.1 extracted from

Moran, R.; Kuilenburg, A.B.; Duley, J.; Nabuurs, S.B.; Retno-Fitri, A.; Christodoulou, J.; Roelofsen, J.; Yntema, H.G.; Friedman, N.R.; van Bokhoven, H.; de Brouwer, A.P.
Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I (2012), Am. J. Med. Genet. A, 158A, 455-460.

Search for more literature for 2.7.6.1

Protein Variants

Protein Variants	Comment	Organism
V142L	the mutation is associated with uric acid overproduction without gout but with developmental delay, hypotonia, hearing loss, and recurrent respiratory infections in human. The mutation affects both allosteric sites that are involved in inhibition of the enzyme and the ATP-binding site	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P60891	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
erythrocyte	-	Homo sapiens	-
fibroblast	-	Homo sapiens	-

Synonyms

Synonyms	Comment	Organism
phosphoribosylpyrophosphate synthetase	-	Homo sapiens
PRPP synthetase	-	Homo sapiens
PRS-I	-	Homo sapiens

Use of this online version of BRENDA is free under the CC BY 4.0 license. See terms of use for full details.

Release 2023.1 (January 2023)