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Literature summary for 4.2.1.49 extracted from

  • Espinos, C.; Pineda, M.; Martinez-Rubio, D.; Lupo, V.; Ormazabal, A.; Vilaseca, M.A.; Spaapen, L.J.; Palau, F.; Artuch, R.
    Mutations in the urocanase gene UROC1 are associated with urocanic aciduria (2009), J. Med. Genet., 46, 407-411.
    View publication on PubMed
Search for more literature for 4.2.1.49

Application

Application Comment Organism
medicine L70P and R450C mutations in the coding region of the UROC1 gene in a girl with urocanic aciduria presenting with mental retardation and intermittent ataxia. Both mutations cannot produce a fully functional enzyme, L70P substitution implies the disruption of an alpha-helix in the N-terminus, which alters its properties and therefore, its function. The R450C change renders impossible any interaction between urocanase and its substrate and loses its enzyme activity Homo sapiens

Cloned(Commentary)

Cloned (Comment) Organism
UROC1 gene cloned into the expression vector pET100/D-TOPO with an N-terminal tag containing the Xpress epitope and a 6xHis-tag. Expressed in Escherichia coli BL21Start (D3) Homo sapiens

Protein Variants

Protein Variants Comment Organism
L70P/R450C L70P and R450C mutations in the coding region of the UROC1 gene in a girl with urocanic aciduria presenting with mental retardation and intermittent ataxia. Both mutations cannot produce a fully functional enzyme, L70P substitution implies the disruption of an alpha-helix in the N-terminus, which alters its properties and therefore, its function. The R450C change renders impossible any interaction between urocanase and its substrate and loses its enzyme activity Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Purification (Commentary)

Purification (Comment) Organism
native and mutant enzymes, by sonication, centrifugation and gel filtration Homo sapiens

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
Urocanate + H2O
-
 Homo sapiens 4,5-Dihydro-4-oxo-5-imidazolepropanoate
-
 ?

Synonyms

Synonyms Comment Organism
UROC1
-
 Homo sapiens
Urocanase
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction L70P and R450C mutations in the coding region of the UROC1 gene in a girl with urocanic aciduria presenting with mental retardation and intermittent ataxia. Both mutations cannot produce a fully functional enzyme, L70P substitution implies the disruption of an alpha-helix in the N-terminus, which alters its properties and therefore, its function. The R450C change renders impossible any interaction between urocanase and its substrate and loses its enzyme activity Homo sapiens