Any feedback?
Literature summary for 4.2.1.75 extracted from
- Late-onset cutaneous porphyria in a patient heterozygous for a uroporphyrinogen III synthase gene mutation (2016), Br. J. Dermatol., 175, 1346-1350 .
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | P10746 | - |
- |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| UROS | - |
Homo sapiens |
General Information
| General Information | Comment | Organism |
|---|---|---|
| malfunction | deficiency of uroporphyrinogen III synthase (UROS) causes congenital erythropoietic porphyria. The disease, originating from the inheritance of mutations within the UROS gene, presents a recessive form of transmission | Homo sapiens |
Use of this online version of BRENDA is free under the CC BY 4.0 license. See terms of use for full details.
Release 2023.1 (January 2023)
Legal
Curated at
Member of
