Protein Name | Niemann-Pick disease, type C1 |
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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] |
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Properties | |