| Primary Identifier | MGI:98917 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 22276 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables uroporphyrinogen-III synthase activity. Involved in heme A biosynthetic process; heme B biosynthetic process; and heme O biosynthetic process. Acts upstream of or within porphyrin-containing compound biosynthetic process. Located in mitochondrion. Is active in cytosol. Is expressed in several structures, including genitourinary system; nervous system; respiratory system; sensory organ; and skeleton. Used to study cutaneous porphyria. Human ortholog(s) of this gene implicated in cutaneous porphyria. Orthologous to human UROS (uroporphyrinogen III synthase). PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality before implantation. Knock-in mice with sufficient residual enzymatic activity for survival display hemolytic anemia, hepatosplenomegaly, increased porphyrin level, erythruria, porphyria, and skin photosensitivity. [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
