Analysis of the mechanism underlying a mild phenotype of hereditary coproporphyria due to a homozygous missense mutation in the transcription initiation codon of the coproporphyrinogen III oxidase gene

Hereditary porphyrias are disorders caused by abnormalities in eight enzymes in the heme biosynthetic pathway. Hereditary coproporphyria (HCP) is a rare autosomal dominant disorder caused by deficiency of coproporphyrinogen III oxidase (CPOX) [1,2]. CPOX, the sixth enzyme in the heme biosynthetic pathway, converts coproporphyrinogen III to protoporphyrinogen IX through two sequential oxidative decarboxylation steps [3]. CPOX activity is located in the mitochondrial membrane. CPOX is expressed as a precursor and contains an amino-terminal mitochondrial targeting signal.

Source: Journal of Dermatological Science - June 14, 2020 Category: Dermatology Authors: Tomohisa Fukui, Eijiro Akasaka, Daiki Rokunohe, Yasushi Matsuzaki, Daisuke Sawamura, Kenji Kabashima, Hajime Nakano Tags: Letter to the Editor Source Type: research