FECH

Role in the organism:

FECH encodes the mitochondrial enzyme ferrochelatase, which plays an important role in hemoglobin synthesis. Hemoglobin is composed of two alpha-globin chains and two beta-globin chains, each of which is attached to an organic molecule (group) of hem. Ferro chelatase catalyzes the last step of heme synthesis, the insertion of Fe atoms into the protoporphyrin molecule. Protoporphyrin was synthesized thanks to the product of the PPOX gene, on chromosome 1.

Role in the disorder (state):

Mutations that reduce or abolish ferrochelatase function cause congenital disorders of porphyrin metabolism known as erythropoietic protoporphyria, accompanied by liver disease and sensitivity to sunlight. Photosensitivity reflects the accumulation of excess protoporphyrin, which can react with oxygen to produce free radicals that damage the DNA molecule.