Aliases for NPC1L1 Gene
External Ids for NPC1L1 Gene
Previous GeneCards Identifiers for NPC1L1 Gene
The protein encoded by this gene is a multi-pass membrane protein. 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. This protein takes up free cholesterol into cells through vesicular endocytosis and plays a critical role in the absorption of intestinal cholesterol. It also has the ability to transport alpha-tocopherol (vitamin E). The drug ezetimibe targets this protein and inhibits the absorption of intestinal cholesterol and alpha-tocopherol. In addition, this protein may play a critical role in regulating lipid metabolism. Polymorphic variations in this gene are associated with plasma total cholesterol and low-density lipoprotein cholesterol (LDL-C) levels and coronary heart disease (CHD) risk. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
GeneCards Summary for NPC1L1 Gene
NPC1L1 (NPC1 Like 1) is a Protein Coding gene. Diseases associated with NPC1L1 include Niemann-Pick Disease and Niemann-Pick Disease, Type C1. Among its related pathways are Vitamin A and carotenoid metabolism and Glucose / Energy Metabolism. GO annotations related to this gene include Rab GTPase binding and myosin V binding. An important paralog of this gene is PTCHD3.
UniProtKB/Swiss-Prot for NPC1L1 Gene
Plays a major role in cholesterol homeostasis. Is critical for the uptake of cholesterol across the plasma membrane of the intestinal enterocyte. Is the direct molecular target of ezetimibe, a drug that inhibits cholesterol absorption. Lack of activity leads to multiple lipid transport defects. The protein may have a function in the transport of multiple lipids and their homeostasis, and may play a critical role in regulating lipid metabolism. Acts as a negative regulator of NPC2 and down-regulates its expression and secretion by inhibiting its maturation and accelerating its degradation.