KEGG   NETWORK: N00595
Entry
N00595                      Network                                

Name
ASL deficiency in urea cycle
Definition
NH3 -- CPS1 >> OTC >> ASS1 >> ASL*
  Expanded
C00014 -- 1373 >> 5009 >> 445 >> 435v1
Class
nt06010 Urea cycle
Type
Variant
Disease
H01398  Primary hyperammonemic disorders (Urea cycle disorders)
H01028  Argininosuccinic aciduria
Gene
1373  CPS1; carbamoyl-phosphate synthase 1
5009  OTC; ornithine carbamoyltransferase
445  ASS1; argininosuccinate synthase 1
435  ASL; argininosuccinate lyase
Variant
435v1 (ASL*)  ASL deficiency
Metabolite
C00014  Ammonia
Reference
PMID:2263616
  Authors
Walker DC, McCloskey DA, Simard LR, McInnes RR
  Title
Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region.
  Journal
Proc Natl Acad Sci U S A 87:9625-9 (1990)
DOI:10.1073/pnas.87.24.9625

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