Ontology highlight
ABSTRACT:
SUBMITTER: Keller MA
PROVIDER: S-EPMC4109017 | biostudies-literature | 2014 Jul
REPOSITORIES: biostudies-literature
Keller Markus A MA Zander Ulrich U Fuchs Julian E JE Kreutz Christoph C Watschinger Katrin K Mueller Thomas T Golderer Georg G Liedl Klaus R KR Ralser Markus M Kräutler Bernhard B Werner Ernst R ER Marquez Jose A JA
Nature communications 20140722
Mutations in the gene coding for membrane-bound fatty aldehyde dehydrogenase (FALDH) lead to toxic accumulation of lipid species and development of the Sjögren-Larsson Syndrome (SLS), a rare disorder characterized by skin defects and mental retardation. Here, we present the crystallographic structure of human FALDH, the first model of a membrane-associated aldehyde dehydrogenase. The dimeric FALDH displays a previously unrecognized element in its C-terminal region, a 'gatekeeper' helix, which ex ...[more]