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Hereditary porphyrias are caused by mutations in genes that encode haem biosynthetic enzymes with resultant buildup of cytotoxic metabolic porphyrin intermediates. A long-standing open question is why the same causal porphyria mutations exhibit widely variable penetrance and expressivity in different individuals. Here we show that severely affected porphyria patients harbour variant alleles in the  ABCB6  gene, also known as  Lan , which encodes an ATP-binding cassette (ABC) transporter. Plasma membrane ABCB6 exports a variety of disease-related porphyrins. Functional studies show that most of these  ABCB6  variants are expressed poorly and/or have impaired function. Accordingly, homozygous disruption of the  Abcb6  gene in mice exacerbates porphyria phenotypes in the  Fech   m1Pas   mouse model, as evidenced by increased porphyrin accumulation, and marked liver injury. Collectively, these studies support  ABCB6  role as a genetic modifier of porphyria and suggest that porphyrin-inducing drugs may produce excessive toxicities in individuals with the rare Lan(−) blood type.

The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6