UROS

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]

Full Name

Uroporphyrinogen III Synthase

Function

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).

Biological Process

Biological Process cellular response to amine stimulus Source:Ensembl
Biological Process cellular response to arsenic-containing substance Source:Ensembl
Biological Process heme biosynthetic process Source:UniProtKB1 Publication
Biological Process protoporphyrinogen IX biosynthetic process Source:UniProtKB-UniPathway
Biological Process response to antibiotic Source:Ensembl
Biological Process response to platinum ion Source:Ensembl
Biological Process uroporphyrinogen III biosynthetic process Source:UniProtKB3 Publications

Cellular Location

cytosol
mitochondrion

Involvement in disease

Congenital erythropoietic porphyria (CEP):
Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. The manifestations of CEP are heterogeneous, ranging from nonimmune hydrops fetalis due to severe hemolytic anemia in utero to milder, later onset forms, which have only skin lesions due to cutaneous photosensitivity in adult life. The deficiency in UROS activity results in the non-enzymatic conversion of hydroxymethylbilane (HMB) into the uroporphyrinogen-I isomer.