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NPC1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

NPC1 gene

The NPC1 gene is responsible for a protein that regulates the movement of cholesterol and lipids within cells, and its dysfunction leads to Niemann-Pick disease type C1.

Normal Function

The NPC1 gene provides instructions for making a protein located within the membranes of lysosomes and endosomes—cellular compartments responsible for digesting and recycling materials. While the exact mechanism is still being studied, the NPC1 protein plays a critical role in the movement of cholesterol and other fats (lipids) within cells and across cell membranes.

Health Conditions Related to Genetic Changes

Niemann-Pick disease

More than 380 mutations in the NPC1 gene have been identified as the cause of Niemann-Pick disease type C1. These mutations typically result in a shortage of functional NPC1 protein, which prevents the proper transport of cholesterol and lipids. As a result, these substances accumulate within cells, impairing normal functions such as cell membrane formation. This lipid buildup eventually leads to cell death, causing the tissue and organ damage characteristic of the disease, including:

  • Movement problems
  • Neurological impairment
  • Lung and liver disease
  • Speech and feeding difficulties

Frequently Asked Questions

Current therapies include miglustat, which can slow neurological decline, and supportive care such as physical therapy, speech therapy, and respiratory support. Research into gene therapy and cholesterol‑lowering agents is ongoing, and patients are encouraged to enroll in clinical trials when available.
Genetic counselors can explain autosomal recessive inheritance, estimate recurrence risk (25% for each pregnancy if both parents are carriers), discuss carrier testing for relatives, and outline prenatal or pre‑implantation genetic diagnosis options for future pregnancies.
Common early symptoms include developmental delays, ataxia (unsteady movements), speech difficulties, and abnormal eye movements (vertical gaze palsy). If these appear before age 5, a neurologist may recommend lipid storage screening and genetic testing for NPC1.
Confirmation is achieved through sequencing of the NPC1 gene from a blood sample. The test looks for pathogenic variants; if found, it is usually followed by a functional assay or a filipin staining test to assess cholesterol accumulation in cultured skin cells.
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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