Primary Identifier | MGI:95513 | Organism | mouse, laboratory |
Chromosome | 18 | NCBI Gene Number | 14151 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including ferrochelatase activity; heme binding activity; and iron-responsive element binding activity. Involved in heme A biosynthetic process; heme B biosynthetic process; and heme O biosynthetic process. Acts upstream of or within several processes, including multicellular organismal-level iron ion homeostasis; regulation of protein metabolic process; and very-low-density lipoprotein particle assembly. Located in mitochondrial inner membrane. Is active in mitochondrial matrix. Is expressed in several structures, including choroid plexus; heart; integumental system; liver and biliary system; and respiratory system. Used to study erythropoietic protoporphyria. Human ortholog(s) of this gene implicated in cutaneous porphyria and erythropoietic protoporphyria. Orthologous to human FECH (ferrochelatase). PHENOTYPE: Homozygotes for an ENU-induced mutation exhibit hemolytic anemia, photosensitivity, cholestasis, and hepatic dysfunction. Homozygotes for a targeted null mutation die prior to embryonic day 3.5. [provided by MGI curators] |