Beschreibung:
<jats:title>Abstract</jats:title><jats:sec><jats:label /><jats:p>Alzheimer's disease (AD) is a growing problem worldwide. Since <jats:italic>ABCA7</jats:italic>’s identification as a risk gene, it has been extensively researched for its role in the disease. We review its recently characterized structure and what the mechanistic insights teach us about its function. We furthermore provide an overview of identified <jats:italic>ABCA7</jats:italic> mutations, their presence in different ancestries and protein domains and how they might cause AD. For <jats:italic>ABCA7</jats:italic> PTC variants and a VNTR expansion, haploinsufficiency is proposed as the most likely mode‐of‐action, although splice events could further influence disease risk. Overall, the need to better understand expression of canonical <jats:italic>ABCA7</jats:italic> and its isoforms in disease is indicated. Finally, ABCA7's potential functions in lipid metabolism, phagocytosis, amyloid deposition, and the interplay between these three, is described. To conclude, in this review, we provide a comprehensive overview and discussion about the current knowledge on ABCA7 in AD, and what research questions remain.</jats:p></jats:sec><jats:sec><jats:title>Highlights</jats:title><jats:p><jats:list list-type="bullet">
<jats:list-item><jats:p>Alzheimer's risk‐increasing variants in <jats:italic>ABCA7</jats:italic> can be found in up to 7% of AD patients.</jats:p></jats:list-item>
<jats:list-item><jats:p>We review the recently characterized protein structure of ABCA7.</jats:p></jats:list-item>
<jats:list-item><jats:p>We present latest insights in genetics, expression patterns, and functions of ABCA7.</jats:p></jats:list-item>
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