Literature summary for 4.2.3.134 extracted from

Veiga-da-Cunha, M.; Verhoeven-Duif, N.M.; de Koning, T.J.; Duran, M.; Dorland, B.; Van Schaftingen, E.
Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria (2013), J. Inherit. Metab. Dis., 36, 961-966.

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Application

Application	Comment	Organism
medicine	phosphohydroxylysinuria results from mutations in the AGXT2L2 gene, encoding phosphohydroxylysine phospholyase, and the resulting lack of activity o the enzyme. Mutants Gly240Arg and Glu437Val isolated from a patient are largely insoluble. The diversity of the clinical symptoms described in three patients with phosphohydroxylysinuria indicates that this is most likely not a neurometabolic disease	Homo sapiens

Cloned(Commentary)

Cloned (Comment)	Organism
expression in Escherichia coli and HK293T cell	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
E437V	recombinant protein is very largely insoluble	Homo sapiens
G240R	recombinant protein is very largely insoluble	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q8IUZ5	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
fibroblast	-	Homo sapiens	-

Synonyms

Synonyms	Comment	Organism
AGXT2L2	-	Homo sapiens
PHYKPL	-	Homo sapiens

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Release 2023.1 (January 2023)