Gene:  NPC1, Human

PrimePCR Primer Assays for Real-Time PCR oligo primer pair gene expression assay target

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PrimePCR
Lookup Tool
Design and Validation of Real-Time PCR Primers-test
Pathway Curation
and Array Design Strategy
Control and Reference Assays for Real-Time PCR

This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus 13 transmembrane domains and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq Aug 2009]

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My PrimePCR Hot List stores your saved PrimePCR products and configurations

My PrimePCR Hot List stores your saved PrimePCR products and configurations

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My PrimePCR Hot List stores your saved PrimePCR products and configurations

My PrimePCR Hot List stores your saved PrimePCR products and configurations

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