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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?

Niemann-Pick disease - caused by mutations in the NPC1 gene

More than 380 mutations in the NPC1 gene have been found to cause Niemann-Pick disease type C1. This type of Niemann-Pick disease is characterized by a buildup of fat within cells that leads to movement problems, neurological impairment, lung and liver disease, and speech and feeding problems. Many of the NPC1 gene mutations result in a change in a single protein building block (amino acid) in the NPC1 protein. These mutations usually cause a shortage of functional protein, which prevents movement of cholesterol and other lipids, leading to their accumulation in cells. Because these lipids are not in their proper location in cells, many normal cell functions that require lipids (such as cell membrane formation) are impaired. The accumulation of lipids and the cell dysfunction eventually leads to cell death, causing the tissue and organ damage seen in Niemann-Pick disease type C1.

Where is the NPC1 gene located?

Cytogenetic Location: 18q11.2

Molecular Location on chromosome 18: base pairs 23,506,183 to 23,586,616

The NPC1 gene is located on the long (q) arm of chromosome 18 at position 11.2.

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 23,506,183 to base pair 23,586,616 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?

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?

amino acid ; cell ; cell membrane ; cholesterol ; endosomes ; gene ; neurological ; protein ; tissue

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.

Reviewed: January 2015
Published: October 5, 2015