Protein Name Niemann-Pick disease, type C1
Organism Danio rerio
Gene ID 553330
Gene Symbol

npc1

UniProt F1QNG7 (F1QNG7_DANRE), A0A2R8Q2J0 (A0A2R8Q2J0_DANRE), A0A0R4IZV0 (A0A0R4IZV0_DANRE)
Relationships Total Number of functionally related compound(s) : 6
Total Number of Articles : 6
Description

Niemann-Pick disease, type C1

Gene Summary

Predicted to enable cholesterol binding activity. Acts upstream of or within several processes, including cholesterol homeostasis; embryonic morphogenesis; and intracellular sphingolipid homeostasis. Predicted to be located in endomembrane system. Predicted to be active in plasma membrane. Is expressed in several structures, including heart; liver; nervous system; pleuroperitoneal region; and yolk syncytial layer. Used to study 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, Jul 2025]

synonyms
  • NPC intracellular cholesterol transporter 1
  • im:7149020
  • wu:fb53a12
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Properties