Protein Name NPC intracellular cholesterol transporter 2
Organism Homo sapiens
Gene ID 10577
Gene Symbol

NPC2

UniProt P61916 (NPC2_HUMAN), A0A024R6C0 (A0A024R6C0_HUMAN)
Relationships Total Number of functionally related compound(s) : 99
Total Number of Articles : 182
Description

NPC intracellular cholesterol transporter 2

Gene Summary

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]

synonyms
  • NPC intracellular cholesterol transporter 2
  • Niemann-Pick disease type C2 protein
  • epididymal protein 1
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Properties