Primary Identifier | MGI:88084 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 109900 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable argininosuccinate lyase activity and identical protein binding activity. Involved in L-arginine biosynthetic process and positive regulation of nitric oxide biosynthetic process. Acts upstream of or within ammonia assimilation cycle; locomotory behavior; and post-embryonic development. Predicted to be located in several cellular components, including cell body fiber; mitochondrial outer membrane; and perikaryon. Predicted to be active in cytosol. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and sensory organ. Used to study argininosuccinic aciduria. Human ortholog(s) of this gene implicated in amino acid metabolic disorder and argininosuccinic aciduria. Orthologous to human ASL (argininosuccinate lyase). PHENOTYPE: Mice homozygous for disruptions in this gene fed well initially but then stopped feeding and became inactive before dying within 48 hours of birth. Arginine metabolism is disrupted leading to abnormal circulating amino acid levels. [provided by MGI curators] |