| Primary Identifier | MGI:104968 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 19044 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables oxygen-dependent protoporphyrinogen oxidase activity. Involved in heme A biosynthetic process; heme B biosynthetic process; and heme O biosynthetic process. Acts upstream of or within heme biosynthetic process. Located in mitochondrial inner membrane. Is active in mitochondrial intermembrane space. Is expressed in several structures, including alimentary system; brain; genitourinary system; integumental system; and sensory organ. Used to study variegate porphyria. Human ortholog(s) of this gene implicated in variegate porphyria. Orthologous to human PPOX (protoporphyrinogen oxidase). PHENOTYPE: Mice heterozygous for the R59W knock-in mutation exhibit elevated stool porphyrin levels and reduced hepatic protoporphyrinogen oxidase activity. [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
