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

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