Primary Identifier | MGI:98916 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 22275 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables uroporphyrinogen decarboxylase activity. Involved in heme A biosynthetic process; heme B biosynthetic process; and heme O biosynthetic process. Acts upstream of or within heme biosynthetic process. Is active in cytosol. Is expressed in several structures, including alimentary system; integumental system; nervous system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in porphyria cutanea tarda. Orthologous to human UROD (uroporphyrinogen decarboxylase). PHENOTYPE: Homozygous inactivation of this loci results in embryonic lethality. Though heterozygous mutant mice are overtly normal, they are susceptible to hepatic iron loading and porphyria. [provided by MGI curators] |