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Reviewed January 2008

What is the official name of the NPC2 gene?

The official name of this gene is “Niemann-Pick disease, type C2.”

NPC2 is the gene's official symbol. The NPC2 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 NPC2 gene?

The NPC2 gene provides instructions for producing a protein that is located mainly inside lysosomes, compartments in the cell that digest and recycle materials. The NPC2 protein binds to cholesterol. Research suggests that it plays an important role in moving cholesterol and certain other lipids (fats) out of the lysosomes to other parts of the cell, but the exact function of the NPC2 protein is unknown.

How are changes in the NPC2 gene related to health conditions?

Niemann-Pick disease - caused by mutations in the NPC2 gene

More than 15 mutations in the NPC2 gene have been found to cause Niemann-Pick disease type C2. Mutations in the NPC2 gene are responsible for approximately 5 percent of all Niemann-Pick disease type C cases. Mutations that prevent any NPC2 protein from being made or that drastically shorten the NPC2 protein usually result in very severe disease with infant or juvenile onset. Mutations that change a single protein building block (amino acid) in the NPC2 protein usually retain some protein activity and result in less severe, more slowly progressing Niemann-Pick disease. These mutations cause the abnormal accumulation of lipids in cells and prevent normal cell function.

Where is the NPC2 gene located?

Cytogenetic Location: 14q24.3

Molecular Location on chromosome 14: base pairs 74,479,939 to 74,493,380

The NPC2 gene is located on the long (q) arm of chromosome 14 at position 24.3.

The NPC2 gene is located on the long (q) arm of chromosome 14 at position 24.3.

More precisely, the NPC2 gene is located from base pair 74,479,939 to base pair 74,493,380 on chromosome 14.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about NPC2?

You and your healthcare professional may find the following resources about NPC2 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 NPC2 gene or gene products?

  • epididymal secretory protein
  • HE1
  • MGC1333
  • NP-C2

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 NPC2?

amino acid ; cell ; cholesterol ; epididymal ; gene ; juvenile ; protein

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 2008
Published: September 8, 2014