Entity Details
| Primary name |
HEM4_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | P10746 |
| EntryName | HEM4_HUMAN |
| FullName | Uroporphyrinogen-III synthase |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 265 |
| SequenceStatus | complete |
| DateCreated | 1989-07-01 |
| DateModified | 2021-06-02 |
Subcellular Location
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Domains
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| Domain | Name | Category | Type |
| IPR003754 | Tetrapyrrole biosynthesis, uroporphyrinogen III synthase | Domain | Domain |
| IPR036108 | Tetrapyrrole biosynthesis, uroporphyrinogen III synthase superfamily | Family | Homologous superfamily |
| IPR039793 | Uroporphyrinogen-III synthase | Family | Family |
Diseases
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| Disease ID | Source | Name | Description |
| 263700 | OMIM | 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. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
2 interactions