adenylosuccinate lyase (adenylosuccinase, ADSL, ASASE, AMPS, ASL)

Function

• nucleotide biosynthesis; AMP biosynthesis; AMP from IMP: step 2/2
• nucleotide biosynthesis; IMP biosynthesis; 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide from N(2)-formyl-N1-(5-phospho-D-ribosyl)glycinamide: step 5/5
• context: purine biosynthesis

N(6)-(1,2-dicarboxyethyl)AMP  <--> fumarate + AMP

(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate
                       <-->
fumarate + 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide

Structure

• belongs to the lyase 1 family, adenylosuccinate lyase subfamily

Alternative splicing

named isoforms=2

Expression

• ubiquitously expressed
• both isoforms are produced by all tissues

Pathology

• defects in ADSL are the cause of adenylosuccinase deficiency

Laboratory

• adenylosuccinate lyase in erythrocytes

More general terms

• lyase

Database

• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:158
• UniProt: http://www.uniprot.org/uniprot/P30566.html
• OMIM: https://mirror.omim.org/entry/103050
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=158