KEGG   NETWORK: N00597
Entry
N00597                      Network                                

Name
OTC deficiency in urea cycle
Definition
NH3 -- CPS1 >> OTC*
  Expanded
C00014 -- 1373 >> 5009v1
Class
nt06010 Urea cycle
Type
Variant
Disease
H01398  Primary hyperammonemic disorders (Urea cycle disorders)
H00187  Ornithine transcarbamylase deficiency
Gene
1373  CPS1; carbamoyl-phosphate synthase 1
5009  OTC; ornithine carbamoyltransferase
Variant
5009v1 (OTC*)  OTC deficiency
Metabolite
C00014  Ammonia
Reference
  Authors
Azevedo L, Soares PA, Quental R, Vilarinho L, Teles EL, Martins E, Diogo L, Garcia P, Cenni B, Wermuth B, Amorim A
  Title
Mutational spectrum and linkage disequilibrium patterns at the ornithine transcarbamylase gene (OTC).
  Journal
Ann Hum Genet 70:797-801 (2006)
DOI:10.1111/j.1469-1809.2006.00283.x

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