NPC1 Gene

What is the NPC1 gene?

NPC1 encodes npc intracellular cholesterol transporter 1, a protein involved in lysosomal cholesterol export. It belongs to the Metabolism category and is part of the Mitochondrial & Metabolic biological cluster. NPC1 is the lysosomal membrane protein that exports cholesterol from lysosomes to the ER and plasma membrane. Loss-of-function causes Niemann-Pick disease type C with cholesterol accumulation in lysosomes. NPC1 is also the Ebola virus receptor.

Biological role and pathway

NPC1 is involved in the lysosomal cholesterol export pathway, which plays a central role in regulating physiological processes relevant to immune defence, cellular energy, and systemic homeostasis. Genes within the Mitochondrial & Metabolic cluster work together to maintain balanced function across interconnected biological systems.

Variants in genes within this pathway may influence an individual's predisposition to altered function in these systems — particularly under conditions of physiological stress such as viral infection or prolonged illness.

Known genetic variants

The following variants (SNPs) in the NPC1 gene have been studied in relation to metabolism and chronic illness. Each variant represents a single nucleotide position where individuals may carry different alleles.

• rs1788822— NPC1 variant
• rs1805081— NPC1 variant
• rs3747178— NPC1 variant

Conditions studied in relation to NPC1

Research into NPC1 variants has explored associations with the following conditions. These are areas of scientific investigation and do not imply that NPC1 causes or treats any condition.

Genetic insights from DNA data

Consumer DNA files from 23andMe, AncestryDNA, and MyHeritage contain raw SNP data. When you upload your file to ChronicDNA, the analysis engine checks your genotype against a curated panel of 80+ genes selected for their relevance to Long COVID, ME/CFS, and connected biological pathways - some of which may include NPC1 and related genes in the mitochondrial & metabolic pathway.

The report is educational - it explains which variants you carry, what the research says about them, and how they fit into the biological pathways most relevant to chronic illness. Results are presented in plain English with appropriate scientific context, no medical jargon, no scare tactics. All results should be discussed with a qualified healthcare provider.

Related genes in the Mitochondrial & Metabolic pathway

NPC1 does not act in isolation. The following genes are functionally related and may be analysed together for a more complete picture of your genetic predispositions.

Frequently asked questions