argininosuccinate lyase (ASL)

Name: ASL
Description: argininosuccinate lyase
Orgname: Homo sapiens
Status: 0
CurrentID: 0
Chromosome: 7
GeneticSource: genomic
MapLocation: 7cen-q11.2
OtherAliases: ASAL
OtherDesignations: argininosuccinase
NomenclatureSymbol: ASL
NomenclatureName: argininosuccinate lyase
NomenclatureStatus: Official
TaxID: 9606
GeneWeight: 7964
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]
ChrSort: 07
ChrStart: 65540775

UniProtein db: ASL UniProt protein knowledge database
Ensembl db: ASL Ensembl genome database

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