UROD Chromosome 1
Uroporphyrinogen decarboxylase
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What This Gene Does
This gene encodes an enzyme in the heme biosynthetic pathway. This enzyme is responsible for catalyzing the conversion of uroporphyrinogen to coproporphyrinogen through the removal of four carboxymethyl side chains. Mutations and deficiency in this enzyme are known to cause familial porphyria cutanea tarda and hepatoerythropoetic porphyria.[provided by RefSeq, Aug 2010]
Associated Conditions (9)
Familial porphyria cutanea tarda
UROD-related disorder
Hepatoerythropoietic porphyria
Sporadic porphyria cutanea tarda
Porphyria cutanea tarda
Thyroid cancer
nonmedullary
1
UROD-related inherited porphyria
Key Variants
RS116233118
Conflicting classifications of pathogenicity
Familial porphyria cutanea tarda, UROD-related disorder, Familial porphyria cutanea tarda
Health Risk
RS1182234844
Conflicting classifications of pathogenicity
Health Risk
RS121918061
Conflicting classifications of pathogenicity
Hepatoerythropoietic porphyria, Sporadic porphyria cutanea tarda, Hepatoerythropoietic porphyria
Health Risk
RS121918066
Conflicting classifications of pathogenicity
Familial porphyria cutanea tarda, Familial porphyria cutanea tarda
Health Risk
RS141312224
Conflicting classifications of pathogenicity
Health Risk
RS186269864
Conflicting classifications of pathogenicity
Familial porphyria cutanea tarda, Familial porphyria cutanea tarda
Health Risk
RS199597323
Conflicting classifications of pathogenicity
Familial porphyria cutanea tarda, Familial porphyria cutanea tarda
Health Risk
RS36033115
Conflicting classifications of pathogenicity
Familial porphyria cutanea tarda, Familial porphyria cutanea tarda
Health Risk
RS369108963
Conflicting classifications of pathogenicity
Familial porphyria cutanea tarda, Familial porphyria cutanea tarda
Health Risk
RS41269105
Conflicting classifications of pathogenicity
Familial porphyria cutanea tarda, Familial porphyria cutanea tarda
Health Risk
RS757178659
Conflicting classifications of pathogenicity
Familial porphyria cutanea tarda, Familial porphyria cutanea tarda
Health Risk
RS780519904
Conflicting classifications of pathogenicity
Familial porphyria cutanea tarda, Familial porphyria cutanea tarda
Health Risk
All Variants (54)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS763086647 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS769378741 | Health Risk | Pathogenic/Likely pathogenic | Familial porphyria cutanea tarda, UROD-related disorder, Familial porphyria cutanea tarda |
| RS771824413 | Health Risk | Pathogenic/Likely pathogenic | Familial porphyria cutanea tarda, UROD-related disorder, UROD-related inherited porphyria |
| RS780227281 | Health Risk | Pathogenic/Likely pathogenic | Familial porphyria cutanea tarda, Familial porphyria cutanea tarda |