InterPro domain: IPR004765

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) [ 1 ].

1. Niemann-Pick C1 functions independently of Niemann-Pick C2 in the initial stage of retrograde transport of membrane-impermeable lysosomal cargo. J. Biol. Chem. 285, 4983-94