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VPS13A gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

VPS13A gene

The VPS13A gene provides instructions for producing the protein chorein, and mutations in this gene are associated with the development of chorea-acanthocytosis.

Normal Function

The VPS13A gene provides instructions for producing a protein called chorein. Chorein is found in various tissues throughout the body. While the specific function of this protein is unknown, some researchers believe that chorein plays a role in the movement of proteins within cells.

Health Conditions Related to Genetic Changes

Chorea-acanthocytosis

Approximately 75 mutations in the VPS13A gene have been found to cause chorea-acanthocytosis. Most of these mutations insert or delete one or more building blocks of DNA (nucleotides) in the gene, leading to the production of an abnormally small, nonfunctional version of chorein.

  • Many mutations are specific to single families.
  • Individuals of French-Canadian or Japanese descent often have a mutation specific to their population.
  • It remains unclear why mutations in this gene affect only the brain and red blood cells to cause the signs and symptoms of this condition.

Other Names for This Gene

  • CHAC
  • CHOREIN
  • FLJ42030
  • KIAA0986
  • vacuolar protein sorting 13 homolog A (S. cerevisiae)
  • vacuolar protein sorting 13A
  • VP13A_HUMAN

Genomic Location

The VPS13A gene is found on chromosome 9.

Frequently Asked Questions

peripheral blood smear can reveal acanthocytes, which are red blood cells with spiky projections, a hallmark of chorea-acanthocytosis. However, the presence of acanthocytes is not exclusive to this condition and can be seen in other liver diseases or lipid disorders. Therefore, while a positive blood smear is a strong clinical indicator, a definitive diagnosis requires genetic testing to identify specific mutations in the VPS13A gene.
Early signs often appear in late childhood or early adolescence and may include subtle clumsiness, difficulty with fine motor tasks like writing or buttoning clothes, and speech impediments such as slurred speech or difficulty swallowing. Behavioral changes, such as irritability or anxiety, can also precede the more obvious movement disorders. Because these symptoms are nonspecific, they are often initially attributed to other developmental issues, making early genetic counseling and blood tests for acanthocytes crucial for diagnosis.
Chorea-acanthocytosis is inherited in an autosomal recessive pattern, meaning a person must inherit two mutated copies of the VPS13A gene, one from each parent, to develop the condition. If both parents are carriers, there is a 25 percent chance with each pregnancy that the child will be affected, a 50 percent chance the child will be a carrier, and a 25 percent chance the child will inherit no mutated copies. Genetic testing can confirm carrier status for at-risk individuals.
Certain populations, such as French-Canadians and Japanese individuals, have specific founder mutations in the VPS13A gene that are more common within those groups due to historical population bottlenecks or genetic drift. This does not mean everyone from these backgrounds has the disease, but it increases the statistical likelihood of being a carrier compared to the general population. Knowing this ancestry can help clinicians decide whether to prioritize VPS13A testing for patients presenting with movement disorders.
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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