This family includes mammalian Niemann-Pick C1 (NPC1) protein and its homologues from plants and yeasts. Human NPC1 is a endosomal/lysosomal membrane protein that facilitates the trafficking of cholesterol and other cargo from lysosomes, and is involved in cholesterol homeostasis. Mutations in the NPC1 gene cause the rare neurodegenerative disease Niemann-Pick Type C (NPC) [].
