ASL
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].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
OMIM IDMIM:608310 Ensembl IDEnsembl:ENSG00000126522 HGNC IDHGNC:HGNC:746 PHARMGKB IDPA25046 Map Location7q11.21 |
GO terms in ASL
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Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
CC | IBA | GO:0005737 | cytoplasm |
CC | TAS | GO:0005737 | cytoplasm |
CC | IBA | GO:0005829 | cytosol |
CC | TAS | GO:0005829 | cytosol |
CC | HDA | GO:0070062 | extracellular exosome |
BP | IBA | GO:0000050 | urea cycle |
Gene expression in normal tissue: ASL
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ASL
Gene-Drug: Aster Plot
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Drug ID | Drug Name | Model Num. |
---|---|---|
iGMDRD353 | PD0325901 | 2 |
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution
Gene Structure: PDB
Models in ASL
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
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No matching records found |