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
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
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Gene expression in normal tissue: ASL

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in ASL


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Database
Pathway ID
Pathway Des.
smpdb SMP00001 Citrullinemia Type I
smpdb SMP00002 Carbamoyl Phosphate Synthetase Deficiency
smpdb SMP00003 Argininosuccinic Aciduria
smpdb SMP00020 Arginine and Proline Metabolism
smpdb SMP00059 Urea Cycle
smpdb SMP00067 Aspartate Metabolism
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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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