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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.
Protein class

Disease related genes, Human disease related genes, Plasma proteins, Potential drug targets, Transporters

Predicted location

Intracellular, Secreted (different isoforms)

Single cell type specificity

Cell type enhanced (Hofbauer cells, Kupffer cells, Alveolar cells type 2)

Immune cell specificity

Group enriched (plasmacytoid DC, intermediate monocyte, classical monocyte, non-classical monocyte, neutrophil, basophil, myeloid DC)

Cell line specificity

Cell line enhanced (ASC diff)

Interaction

Interacts with NPC1 (via the second lumenal domain) in a cholestrol-dependent manner (PubMed:18772377, PubMed:27238017, PubMed:27551080). Interacts with NUS1/NgBR, the interaction stabilizes NCP2 and regulates cholesterol trafficking (PubMed:19723497). Interacts with DHDDS (PubMed:15110773). Interacts with NEDD4L (via C2 domain) (PubMed:19664597). Interacts with NPC1L1 (PubMed:22095670).

More Types Infomation

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