NPC2

This gene encodes a protein containing a lipid recognition domain. The encoded protein may function in regulating the transport of cholesterol through the late endosomal/lysosomal system. Mutations in this gene have been associated with Niemann-Pick disease, type C2 and frontal lobe atrophy. [provided by RefSeq, Jul 2008]

NPC Intracellular Cholesterol Transporter 2

Intracellular cholesterol transporter which acts in concert with NPC1 and plays an important role in the egress of cholesterol from the lysosomal compartment (PubMed:17018531, PubMed:11125141, PubMed:18772377, PubMed:29580834, PubMed:15937921).
Unesterified cholesterol that has been released from LDLs in the lumen of the late endosomes/lysosomes is transferred by NPC2 to the cholesterol-binding pocket in the N-terminal domain of NPC1 (PubMed:17018531, PubMed:18772377, PubMed:27238017).
May bind and mobilize cholesterol that is associated with membranes (PubMed:18823126).
NPC2 binds cholesterol with a 1:1 stoichiometry (PubMed:17018531).
Can bind a variety of sterols, including lathosterol, desmosterol and the plant sterols stigmasterol and beta-sitosterol (PubMed:17018531).
The secreted form of NCP2 regulates biliary cholesterol secretion via stimulation of ABCG5/ABCG8-mediated cholesterol transport (By similarity).

Cholesterol effluxManual Assertion Based On ExperimentIDA:BHF-UCL
Cholesterol homeostasisManual Assertion Based On ExperimentIDA:UniProtKB
Cholesterol metabolic processIEA:UniProtKB-KW
Cholesterol transportManual Assertion Based On ExperimentIDA:UniProtKB
Glycolipid transportManual Assertion Based On ExperimentTAS:HGNC-UCL
Intracellular cholesterol transportManual Assertion Based On ExperimentIDA:UniProtKB
Intracellular sterol transportManual Assertion Based On ExperimentIDA:HGNC-UCL
Phospholipid transportManual Assertion Based On ExperimentTAS:HGNC-UCL
Regulation of isoprenoid metabolic processManual Assertion Based On ExperimentTAS:UniProtKB
Response to virusManual Assertion Based On ExperimentIEP:UniProtKB
Sterol transportManual Assertion Based On ExperimentIBA:GO_Central

Secreted
Endoplasmic reticulum
Lysosome
Interaction with cell-surface M6PR mediates endocytosis and targeting to lysosomes.

Niemann-Pick disease C2 (NPC2):
A lysosomal storage disorder that affects the viscera and the central nervous system. It is due to defective intracellular processing and transport of low-density lipoprotein derived cholesterol. It causes accumulation of cholesterol in lysosomes, with delayed induction of cholesterol homeostatic reactions. Niemann-Pick disease type C2 has a highly variable clinical phenotype. Clinical features include variable hepatosplenomegaly and severe progressive neurological dysfunction such as ataxia, dystonia and dementia. The age of onset can vary from infancy to late adulthood.