Gene: [18q21/FECH] ferrochelatase (protoporphyria); protoporphyria erythropoietic;
FUN | [1]
Catalyzes the last step in protoheme biosynthesis. [2] Systematic name: protoheme ferro-lyase. Catalyzes reaction: protoporphyrin + Fe(2+) = protoheme + 2 H+." |
HET | Several loci responsible for different forms of porphyria are mapped in the human genome. On the classification of hereditary porphyrias, see GEM:01p34/UROD." |
REL | GEM:03p2/FECHP |
REF | LOC,CLO
"Brenner DA &: AJHG, 50, 1203-1210, 1992 LOC,CLO "Inazawa J &: CCG, 58, 2014, 1991 LOC,CLO "Nakahashi Y &: BBRC, 173, 748-755, 1990 LOC,CLO "Whitcombe DM &: Genomics, 11, 1152-1154, 1991 |
SWI | SWISSPROT: P22830 |
KEY | mito, hem, derm, mtbd, pigm |
CLA | coding, basic |
LOC | 18 q21.2-.3 |
MIM | MIM: 177000 |
EZN | ENZYME: 4.99.1.1 |
