argininosuccinate lyase (ASL)
Description: argininosuccinate lyase
Orgname: Homo sapiens
NomenclatureName: argininosuccinate lyase
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]
ASL (argininosuccinate lyase, also known as argininosuccinase) is an enzyme that ... The ASL gene is located on chromosome 7 between the centromere (junction of the ...
ASL is the gene's official symbol. The ASL gene is also known by other names, listed ... The ASL gene provides instructions for making the protein argininosuccinate ...
Complete information for ASL gene (protein-coding), argininosuccinate lyase
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Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene. ( 2002) Hum Genet. ...
Genes > ASL > References. These sources were used to develop the ... mutation analysis in 27 patients and a completed structure of the human ASL gene. ...
The information on this page is seed content provided by an organization. ... More than 30 different mutations in the ASL gene have been identified worldwide. ...
ASL (argininosuccinate lyase) is a human gene that makes the protein ... The ASL enzyme starts the reaction in which the amino acid arginine, a building ...
Human gene symbol report page for 'ASL - argininosuccinate lyase'
Gene expression in the human brain for the gene ASL, also known as 'argininosuccinate lyase'
a novel ASL pseudogene located in the centromeric region of chromosome 7, 14 ... ASL specific siRNA, sHRNA Plasmid and shRNA Lentiviral Particles gene silencers ...
Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene. ...
Two main types of ASL deficiency have been described and vary according to age ... The human ASL gene is approximately 17 kb in length, is comprised of 16 coding ...
Human protein-coding gene ASL. Represented by 292 ESTs from 137 cDNA libraries. ... Tissues and development stages from this gene's sequences survey gene expression. ...
Argininosuccinic aciduria is an urea cycle disorder caused by argininosuccinate lyase (ASL) deficiency and is inherited as an autosomal-recessive trait.