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Reviewed January 2015
What is the official name of the NPC1 gene?
The official name of this gene is “Niemann-Pick disease, type C1.”
NPC1 is the gene's official symbol. The NPC1 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the NPC1 gene?
The NPC1 gene provides instructions for making a protein that is located within the membrane of compartments in the cell called lysosomes and endosomes, which digest and recycle materials. While the exact function of this protein is unclear, it plays a role in the movement of cholesterol and other types of fats (lipids) within cells and across cell membranes.
How are changes in the NPC1 gene related to health conditions?
Where is the NPC1 gene located?
Cytogenetic Location: 18q11.2
Molecular Location on chromosome 18: base pairs 23,506,184 to 23,586,617
(Homo sapiens Annotation Release 107, GRCh38.p2) (
The NPC1 gene is located on the long (q) arm of chromosome 18 at position 11.2.
More precisely, the NPC1 gene is located from base pair 23,506,184 to base pair 23,586,617 on chromosome 18.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about NPC1?
You and your healthcare professional may find the following resources about NPC1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the NPC1 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding NPC1?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (10 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.