| Primary Identifier | MGI:891996 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 227231 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables carbamoyl-phosphate synthase (ammonia) activity. Predicted to be involved in several processes, including alpha-amino acid metabolic process; carbamoyl phosphate biosynthetic process; and triglyceride catabolic process. Located in mitochondrion. Is expressed in alimentary system; intestine; liver; and midgut. Used to study carbamoyl phosphate synthetase I deficiency disease. Human ortholog(s) of this gene implicated in carbamoyl phosphate synthetase I deficiency disease; persistent fetal circulation syndrome; and vascular disease. Orthologous to human CPS1 (carbamoyl-phosphate synthase 1). PHENOTYPE: Homozygous mutation of this gene results in death by 36 hours after birth and hyperammonemia. [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
