ASL (NM_000048) - argininosuccinate lyase
Argininosuccinate Lyase Isoform 1
Legend
Protein
Kinases
Sites
Color corresponds to (the most severe) impact of mutations on given site:
Interactions
If you have any questions or feedback about this protein:
Contact us
PTM Interaction Network Visualisation
Protein summary
This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate, an essential step in the liver in detoxifying ammonia via the urea cycle. Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. A nontranscribed pseudogene is also located on the long arm of chromosome 22. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008].
- Strand
- +
- Chromosome
- 7
- Protein
- 464 residues
- All mutations
- 112
- PTM sites
- 17
- CDS
- 65,541,068 - 65,557,899
- Transcription
- 65,540,775 - 65,558,329
Usage summary
Network
PTM site
Kinases group
|
Kinase, PTM site or protein
|