ASL Antibody – Rabbit Polyclonal

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]

ASL: Defects in ASL are the cause of arginosuccinic aciduria (ARGINSA). An autosomal recessive disorder of the urea cycle. The disease is characterized by mental and physical retardation, liver enlargement, skin lesions, dry and brittle hair showing trichorrhexis nodosa microscopically and fluorescing red, convulsions, and episodic unconsciousness. Belongs to the lyase 1 family. Argininosuccinate lyase subfamily.

Protein type: Lyase; Amino Acid Metabolism - alanine, aspartate and glutamate; EC 4.3.2.1; Amino Acid Metabolism - arginine and proline

Chromosomal Location of Human Ortholog: 7q11.21

Cellular Component: cytoplasm; cytosol

Molecular Function: argininosuccinate lyase activity

Biological Process: arginine catabolic process; arginine biosynthetic process via ornithine; internal protein amino acid acetylation; urea cycle

Disease: Argininosuccinic Aciduria