argininosuccinate lyase (argininosuccinase, ASAL, ASL)

Function

• amino-acid biosynthesis; L-arginine biosynthesis
• L-arginine from L-ornithine & carbamoyl phosphate: step 3/3
• nitrogen metabolism; urea cycle
• L-arginine & fumarate from N(omega)-L-argininosuccinate: step 1/1

2-(N(omega)-L-argininosuccinate <--> fumarate + L-arginine

Structure

• homotetramer
• belongs to the lyase 1 family, argininosuccinate lyase subfamily

Pathology

• defects in ASL are the cause of arginosuccinicaciduria

Laboratory

• argininosuccinate lyase in fibroblasts
• argininosuccinate lyase in chorionic villus
• argininosuccinate lyase in liver
  • argininosuccinate lyase in liver from fetus
• argininosuccinate lyase in serum

More general terms

• lyase
• urea cycle enzyme

Additional terms

• argininosuccinate lyase deficiency; argininosuccinic aciduria; argininosuccinic acidemia
• urea cycle

Database

• UniProt: http://www.uniprot.org/uniprot/P04424.html
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:435
• OMIM: https://mirror.omim.org/entry/207900
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=435