Article
A gatekeeper helix determines the substrate specificity of Sjögren-Larsson Syndrome enzyme fatty aldehyde dehydrogenase.
Nature communications - 22 Jul 2014
Keller Markus A, Zander Ulrich, Fuchs Julian E, Kreutz Christoph, Watschinger Katrin, Mueller Thomas, Golderer Georg, Liedl Klaus R, Ralser Markus, Kräutler Bernhard, Werner Ernst R, Marquez Jose A
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.