Aliases for UROS Gene
External Ids for UROS Gene
Previous GeneCards Identifiers for UROS Gene
The protein encoded by this gene catalyzes the fourth step of porphyrin biosynthesis in the heme biosynthetic pathway. Defects in this gene cause congenital erythropoietic porphyria (Gunther's disease). [provided by RefSeq, Jul 2008]
GeneCards Summary for UROS Gene
UROS (Uroporphyrinogen III Synthase) is a Protein Coding gene. Diseases associated with UROS include Porphyria, Congenital Erythropoietic and Cutaneous Porphyria. Among its related pathways are Metabolism and Porphyrin and chlorophyll metabolism. Gene Ontology (GO) annotations related to this gene include cofactor binding and uroporphyrinogen-III synthase activity.
UniProtKB/Swiss-Prot Summary for UROS Gene
Catalyzes cyclization of the linear tetrapyrrole, hydroxymethylbilane, to the macrocyclic uroporphyrinogen III, the branch point for the various sub-pathways leading to the wide diversity of porphyrins. Porphyrins act as cofactors for a multitude of enzymes that perform a variety of processes within the cell such as methionine synthesis (vitamin B12) or oxygen transport (heme).