Target

Gene symbol :  
Npc1
NCBI gene ID :  
18145
Gene full name :  
NPC intracellular cholesterol transporter 1
Synonym :  
Niemann-Pick disease, type C1

Protein function

Protein name :  
NPC1
Mediates intracellular cholesterol trafficking; essential for lipid homeostasis.

Expected phenotype

Cholesterol accumulation; neurodegeneration.

Human disease relevance

Causes Niemann-Pick disease type C1.

Model applications

Models for lipid storage disorders and neurodegeneration.

Keywords:

Cholesterol transport, Lysosomal storage, Neurodegeneration

Availability & Delivery:

  • Cryo-recovery using in-house SOPF facilities
  • Worldwide delivery by professional breeders

Npc1

conditional Knockout mouse

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