Disease-gene associations mined from literature

Literature associating NPC1L1 and C syndrome

NPC1L1 [ENSP00000289547]

Niemann-Pick C1-like protein 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; Solute carriers

Synonyms:  NPC1L1,  NPC1L1p,  hNPC1L1,  NPC1L1-001,  NPC1L1-002 ...

Linkouts:  STRING  Pharos  UniProt  OMIM