Primary Identifier | MGI:104841 | Organism | mouse, laboratory |
Chromosome | 16 | NCBI Gene Number | 12892 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables coproporphyrinogen oxidase activity. A structural constituent of eye lens. 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 membrane and mitochondrion. Is active in mitochondrial intermembrane space. Is expressed in embryo; liver; and yolk sac. Used to study hereditary coproporphyria. Human ortholog(s) of this gene implicated in hereditary coproporphyria and liver disease. Orthologous to human CPOX (coproporphyrinogen oxidase). PHENOTYPE: Mice homozygous for a spontaneous allele develop cataracts. Mice homozygous for an ENU-induced allele have reduced mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) and increased red blood cell volume distribution width (RDW). [provided by MGI curators] |