KEGG   VARIANT: 131669v1
Entry
131669v1                      Variant                              
Name
UROC1 deficiency
Type
Loss of function
Gene
UROC1  urocanate hydratase 1 [KO:K01712]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 613012
Network
nt06037  Histidine metabolism
Disease
H01233  Urocanase deficiency
Reference
PMID:19304569
  Authors
Espinos C, Pineda M, Martinez-Rubio D, Lupo V, Ormazabal A, Vilaseca MA, Spaapen LJ, Palau F, Artuch R
  Title
Mutations in the urocanase gene UROC1 are associated with urocanic aciduria.
  Journal
J Med Genet 46:407-11 (2009)
DOI:10.1136/jmg.2008.060632
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