Protein Name NPC intracellular cholesterol transporter 1
Organism Mus musculus
Gene ID 18145
Gene Symbol

Npc1

UniProt O35604 (NPC1_MOUSE), Q7TMD4 (Q7TMD4_MOUSE)
Relationships Total Number of functionally related compound(s) : 111
Total Number of Articles : 229
Description

NPC intracellular cholesterol transporter 1

Gene Summary

Predicted to enable cholesterol binding activity. Involved in several processes, including cholesterol homeostasis; protein glycosylation; and viral entry into host cell. Acts upstream of or within several processes, including adult walking behavior; cellular response to low-density lipoprotein particle stimulus; and cholesterol efflux. Located in several cellular components, including Golgi apparatus; membrane raft; and nuclear envelope. Is expressed in several structures, including genitourinary system; liver; lung; spleen; and stomach. Used to study Niemann-Pick disease and Niemann-Pick disease type C1. Human ortholog(s) of this gene implicated in Niemann-Pick disease type C1. Orthologous to human NPC1 (NPC intracellular cholesterol transporter 1). [provided by Alliance of Genome Resources, Apr 2022]

synonyms
  • NPC intracellular cholesterol transporter 1
  • Niemann-Pick type C1
  • niemann-Pick C1 protein
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Properties