DISEASES

Disease-gene associations mined from literature

Literature associating NPC1L1 and sitosterolemia

NPC1L1 [ENSP00000289547]

NPC1-like intracellular cholesterol transporter 1; 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.

Synonyms:  NPC1L1,  NPC1L1p,  hNPC1L1,  A0A0C4DFX6,  A0A0C4DGG6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM