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

• Main Authors: Fukuda, Y, Cheong, P.L, Lynch, J, Brighton, C, Frase, S, Kargas, V, Rampersaud, E, Wang, Y, Sankaran, V.G, Yu, B, Ney, P.A, Weiss, M.J, Vogel, P, Bond, P.J, Ford, R.C, Trent, R.J, Schuetz, J.D
• Other Authors: BIOLOGICAL SCIENCES
• Format: Article
• Published: Nature Publishing Group 2020
• Subjects: ABC transporter; CD11b antigen; CD4 antigen; CD45 antigen; CD8 antigen; cpox protein; fech protein; gamma interferon receptor 1; hmbs protein; lan antigen abcb6 protein; porphyrin; ppox protein; protein; ter119 protein; unclassified drug; ABCB6 protein, human; Abcb6 protein, mouse; alloantigen; heme; LAN antigen; allele; antigen; blood; enzyme activity; gene expression; genetic analysis; membrane; mutation; phenotype; toxicity; abcb6 gene; adult; animal cell; animal experiment; animal model; animal tissue; Article; cell membrane; clinical article; controlled study; disease exacerbation; experimental liver injury; female; gene; gene mutation; genetic code; genetic variability; hereditary porphyria; human; male; mouse; nonhuman; porphyria; animal; Bagg albino mouse; biosynthesis; cohort analysis; disease model; genetics; knockout mouse; metabolism; sequence homology; severity of illness index; transport at the cellular level; urine; whole exome sequencing; Mus; Alleles; Animals; ATP-Binding Cassette Transporters; Biological Transport; Cell Membrane; Cohort Studies; Disease Models, Animal; Female; Heme; Humans; Isoantigens; Male; Mice; Mice, Inbred BALB C; Mice, Knockout; Mutation; Porphyrias; Porphyrins; Sequence Homology, Amino Acid; Severity of Illness Index; Whole Exome Sequencing
• Online Access: https://scholarbank.nus.edu.sg/handle/10635/182438
• Institution: National University of Singapore

10.1038/ncomms12353