Entity Details

Primary name UROS
Entity type gene
Source Source Link

Details

PrimaryID7390
RefseqGeneNG_011557
SymbolUROS
Nameuroporphyrinogen III synthase
Chromosome10
Location10q26.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-27
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsHEM4_HUMAN

GO terms

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GOName
GO:0004852 uroporphyrinogen-III synthase activity
GO:0005739 mitochondrion
GO:0005829 cytosol
GO:0006780 uroporphyrinogen III biosynthetic process
GO:0006782 protoporphyrinogen IX biosynthetic process
GO:0006783 heme biosynthetic process

Diseases

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Disease IDSourceNameDescription
263700 OMIMCongenital 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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

12 interactions