| Primary Identifier | MGI:97448 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 18416 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable several functions, including identical protein binding activity; ornithine carbamoyltransferase activity; and phosphate ion binding activity. Predicted to be involved in several processes, including ammonium homeostasis; non-proteinogenic amino acid metabolic process; and urea cycle. Predicted to act upstream of or within arginine biosynthetic process. Located in mitochondrial inner membrane. Is expressed in alimentary system; intestine; liver; and small intestine. Used to study ornithine carbamoyltransferase deficiency. Human ortholog(s) of this gene implicated in ornithine carbamoyltransferase deficiency. Orthologous to human OTC (ornithine transcarbamylase). PHENOTYPE: Hemizygous males and homozygous females for spontaneous mutations exhibit small size, paucity of hair, wrinkled skin, orotic acidurea with bladder stones, hyperammonemia, reduced plasma arginine and citrulline, and loss of brain cholinergic neurons. [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
