NPC1L1 protein possesses multiple conserved domains, including a SSD that is found in many other proteins involved in cholesterol metabolism and regulation. NPC1L1 mediates intestinal cholesterol absorption and it may also limit hepatobiliary cholesterol …

Niemann-Pick C1-Like 1 (NPC1L1) is a polytopic transmembrane protein localized at the apical membrane of enterocytes and the canalicular membrane of hepatocytes. It functions as a sterol transporter to mediate intestinal cholesterol absorption and counterbalances hepatobiliary cholesterol excretion.

2024年12月25日 · NPC1L1 (NPC1 Like Intracellular Cholesterol Transporter 1) is a Protein Coding gene. Diseases associated with NPC1L1 include Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 7 and Lipodystrophy, Congenital Generalized, Type 1 .

2021年7月16日 · Niemann-Pick C1-like 1 (NPC1L1) protein plays a central role in the intestinal cholesterol absorption and is the target of a drug, ezetimibe, which inhibits NPC1L1 to reduce cholesterol absorption. Here, we present cryo-electron microscopy structures of human NPC1L1 in apo state, cholesterol-enriche …

NPC1L1 is the molecular target of ezetimibe, a potent cholesterol absorption inhibitor that is widely used in treating hypercholesterolemia. Recent findings suggest that NPC1L1 deficiency or ezetimibe treatment also prevents diet-induced hepatic steatosis and obesity in addition to reducing blood cholesterol.

2025年2月8日 · It contains a conserved N-terminal Niemann-Pick C1 (NPC1) domain and a putative sterol-sensing domain (SSD) which includes a YQRL motif functioning as a plasma membrane to trans-Golgi network transport signal in other proteins.

2023年10月13日 · Niemann-Pick C1-like 1 (NPC1L1) is essential for intestinal cholesterol absorption. Together with the cholesterol-rich and Flotillin-positive membrane microdomain, NPC1L1 is internalized via...

2025年2月8日 · NPC1L1 gene is associated with plasma total and LDL-C levels and coronary heart disease risk. NPC1L1 promoter variants might explain in part the hypercholesterolemic phenotype of some subjects with non-LDL receptor/apolipoprotein B autosomal dominant hypercholesterolemia

In 2004, NPC1L1 was identified to be essential for intestinal cholesterol absorption, a process that is sensitive to a cholesterol absorption inhibitor ezetimibe. This review summarizes recent studies on NPC1L1 function and proposes a model for NPC1L1-dependent cholesterol uptake.

Here, we present cryo–electron microscopy structures of human NPC1L1 in apo state, cholesterol-enriched state, and ezetimibe-bound state to reveal molecular details of NPC1L1-mediated cholesterol uptake and ezetimibe inhibition.