| Primary Identifier | MGI:103202 | Organism | mouse, laboratory |
| Chromosome | 15 | NCBI Gene Number | 11564 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) Enables (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido) succinate lyase (fumarate-forming) activity and N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity. Involved in purine ribonucleoside monophosphate biosynthetic process. Located in mitochondrion. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in adenylosuccinase lyase deficiency. Orthologous to human ADSL (adenylosuccinate lyase). PHENOTYPE: Homozygous codon changes (ArgAla>GlnVal) in the active domain that mimic the human ortholog result in reduced stability and activity of the encoded enzyme. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
