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NPC1
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NPC1

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Reviewed January 2008

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 producing a protein located mainly in the membranes of the lysosomes and endosomes, compartments in the cell that digest and recycle materials. While its exact function is not completely understood, this protein plays a role in the movement of cholesterol and other types of lipids (fats) 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 250 mutations in the NPC1 gene have been found to cause Niemann-Pick disease type C1. Mutations in the NPC1 gene are responsible for approximately 95 percent of all Niemann-Pick disease type C cases. Many of the mutations change a single protein building block (amino acid) in the NPC1 protein. These mutations usually cause a shortage of this protein, which leads to the abnormal accumulation of cholesterol and other lipids within cells. This lipid accumulation prevents cells from functioning normally and can lead to cell death.

Where is the NPC1 gene located?

Cytogenetic Location: 18q11-q12

Molecular Location on chromosome 18: base pairs 21,111,462 to 21,166,580

The NPC1 gene is located on the long (q) arm of chromosome 18 between positions 11 and 12.

The NPC1 gene is located on the long (q) arm of chromosome 18 between positions 11 and 12.

More precisely, the NPC1 gene is located from base pair 21,111,462 to base pair 21,166,580 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?

  • NPC

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?

acids ; amino acid ; cell ; cell membrane ; cholesterol ; endosomes ; gene ; lipid ; lysosome ; mutation ; protein

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (11 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 2008
Published: May 21, 2012