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NPC2

NPC2

Reviewed January 2015

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 making a protein that is located inside lysosomes, which are compartments in the cell that digest and recycle materials. The NPC2 protein attaches (binds) to cholesterol. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods. Research suggests that the NPC2 protein plays an important role in moving cholesterol and certain other fats (lipids) out of the lysosomes to other parts of the cell.

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

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

More than 20 mutations in the NPC2 gene have been found to cause Niemann-Pick disease type C2. 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. The NPC2 gene mutations that cause Niemann-Pick disease type C2 reduce or eliminate NPC2 protein activity, 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 C2.

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
  • NPC2_HUMAN

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?

cell ; cell membrane ; cholesterol ; epididymal ; 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 (9 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: August 24, 2015