ASL, Official Symbol ASLprovided by HGNC Official Full Name argininosuccinate lyaseprovided by HGNC Primary source HGNC:HGNC:746 See related Ensembl:ENSG00000126522 MIM:608310; AllianceGenome:HGNC:746 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ASAL 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] Expression Broad expression in liver (RPKM 45.2), kidney (RPKM 25.5) and 24 other tissues See more Orthologs mouse all