Aliases for ASL Gene
External Ids for ASL Gene
Previous GeneCards Identifiers for ASL Gene
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]
GeneCards Summary for ASL Gene
ASL (Argininosuccinate Lyase) is a Protein Coding gene. Diseases associated with ASL include argininosuccinic aciduria and immunodeficiency due to purine nucleoside phosphorylase deficiency. Among its related pathways are Metabolism and Carbon metabolism. GO annotations related to this gene include argininosuccinate lyase activity. An important paralog of this gene is ENSG00000249319.