Ontology highlight
ABSTRACT:
SUBMITTER: Scortecci JF
PROVIDER: S-EPMC8501128 | biostudies-literature | 2021 Oct
REPOSITORIES: biostudies-literature
Scortecci Jessica Fernandes JF Molday Laurie L LL Curtis Susan B SB Garces Fabian A FA Panwar Pankaj P Van Petegem Filip F Molday Robert S RS
Nature communications 20211008 1
ABCA4 is an ATP-binding cassette (ABC) transporter that flips N-retinylidene-phosphatidylethanolamine (N-Ret-PE) from the lumen to the cytoplasmic leaflet of photoreceptor membranes. Loss-of-function mutations cause Stargardt disease (STGD1), a macular dystrophy associated with severe vision loss. To define the mechanisms underlying substrate binding and STGD1, we determine the cryo-EM structure of ABCA4 in its substrate-free and bound states. The two structures are similar and delineate an elon ...[more]