Pub. Date : 2010 Oct
PMID : 20850938
1 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | Finally, about 4% of unrelated EPP patients have X-linked dominant protoporphyria (XLDPP) (MIM 300752) caused by gain-of-function mutations in the ALAS2 gene leading to an increased erythroid heme biosynthesis and subsequently an accumulation of protoporphyrin without any FECH deficiency. | protoporphyrin IX | 5'-aminolevulinate synthase 2 | Homo sapiens |