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ASL (NM_000048) - argininosuccinate lyase

Argininosuccinate Lyase Isoform 1

PTM Interaction Network Visualisation

Protein summary

This is preferred isoform of ASL protein. View all 4 isoforms
ASL: argininosuccinate lyase isoform 1
Description:

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
3.02% of sequence is predicted to be disordered

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External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 435
UniProt
Ensembl