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NPC2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

NPC2 gene

The NPC2 gene provides instructions for making a protein essential for moving cholesterol and other lipids out of lysosomes, and mutations in this gene are linked to Niemann-Pick disease type C2.

Normal Function

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, a waxy, fat-like substance 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.

Health Conditions Related to Genetic Changes

Niemann-Pick disease

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 the movement of cholesterol and other lipids, leading to their accumulation in cells. Because these lipids are not in their proper location, many normal cell functions that require lipids (such as cell membrane formation) are impaired. The accumulation of lipids and the resulting cell dysfunction eventually lead to cell death, causing the tissue and organ damage seen in Niemann-Pick disease type C2.

Other Names for This Gene

  • epididymal secretory protein
  • HE1
  • MGC1333
  • Niemann-Pick disease, type C2
  • NP-C2
  • NPC2_HUMAN

Frequently Asked Questions

Niemann-Pick disease type C2 can present with a wide range of symptoms, and the age of onset varies. In infants, early signs might include prolonged jaundice, an enlarged liver and/or spleen (hepatosplenomegaly), and feeding difficulties. In later childhood, neurological symptoms become more prominent, such as developmental delay, clumsiness (ataxia), difficulty with eye movements (vertical supranuclear gaze palsy), slurred speech (dysarthria), and learning difficulties. Cataplexy (sudden loss of muscle tone triggered by strong emotions) can also be an early sign.
Currently, there is no cure for Niemann-Pick disease type C2, but treatments focus on managing symptoms and slowing disease progression. Miglustat is an approved medication that can help reduce the accumulation of lipids and may improve neurological symptoms. Other treatments are supportive and include physical therapy, occupational therapy, speech therapy, and medications to manage seizures or other specific symptoms. A multidisciplinary team approach is essential for comprehensive care.
Niemann-Pick disease type C2 caused by NPC2 gene mutations is inherited in an autosomal recessive pattern. This means that a child must inherit two copies of the mutated NPC2 gene, one from each parent, to develop the condition. If you have one mutated copy, you are a carrier and typically do not show symptoms. If both parents are carriers of an NPC2 mutation, there is a 25% chance with each pregnancy that their child will inherit two altered copies and develop NP-C2, a 50% chance the child will be a carrier, and a 25% chance the child will not inherit any altered copies.
Diagnosis of NP-C2 typically involves a combination of clinical evaluation, biochemical tests, and genetic testing. Biochemical tests, such as a filipin staining test on skin fibroblasts, can detect the characteristic accumulation of unesterified cholesterol. Genetic testing for mutations in the NPC2 gene (or NPC1 gene, which causes the majority of Niemann-Pick type C cases) provides a definitive diagnosis. Imaging studies like MRI of the brain may also show characteristic changes.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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