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Browse result for Congenital erythropoietic porphyria
※ introduction The porphyrias are diseases caused by defects in heme synthesis, 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.
Reference
OMIM: Congenital erythropoietic porphyria
Reference
OMIM: Congenital erythropoietic porphyria
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD04047 | P10746 | 7390 | UROS | Uroporphyrinogen-III synthase | Homo sapiens |
