Ontology highlight
ABSTRACT:
SUBMITTER: Yien YY
PROVIDER: S-EPMC5617249 | biostudies-literature | 2017 Sep
REPOSITORIES: biostudies-literature
Yien Yvette Y YY Ducamp Sarah S van der Vorm Lisa N LN Kardon Julia R JR Manceau Hana H Kannengiesser Caroline C Bergonia Hector A HA Kafina Martin D MD Karim Zoubida Z Gouya Laurent L Baker Tania A TA Puy Hervé H Phillips John D JD Nicolas Gaël G Paw Barry H BH
Proceedings of the National Academy of Sciences of the United States of America 20170905 38
Loss-of-function mutations in genes for heme biosynthetic enzymes can give rise to congenital porphyrias, eight forms of which have been described. The genetic penetrance of the porphyrias is clinically variable, underscoring the role of additional causative, contributing, and modifier genes. We previously discovered that the mitochondrial AAA+ unfoldase ClpX promotes heme biosynthesis by activation of δ-aminolevulinate synthase (ALAS), which catalyzes the first step of heme synthesis. CLPX has ...[more]