Family

Niemann-Pick C type protein (IPR004765)

Short name: NP_C_type

Family relationships

Description

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) [PMID: 20007703].

GO terms

Biological Process

No terms assigned in this category.

Molecular Function

GO:0005319 lipid transporter activity

Cellular Component

GO:0016021 integral component of membrane

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
TIGRFAMs