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VPS13A
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VPS13A

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Reviewed May 2008

What is the official name of the VPS13A gene?

The official name of this gene is “vacuolar protein sorting 13 homolog A (S. cerevisiae).”

VPS13A is the gene's official symbol. The VPS13A 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 VPS13A gene?

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

How are changes in the VPS13A gene related to health conditions?

chorea-acanthocytosis - caused by mutations in the VPS13A gene

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 VPS13A gene. These changes in the gene lead to the production of an abnormally small, nonfunctional version of chorein. Many of the mutations are specific to single families, although people with chorea-acanthocytosis who are French-Canadian or Japanese tend to have a mutation that is specific to their population. It is unclear why mutations in the VPS13A gene affect only the brain and red blood cells, causing the signs and symptoms of chorea-acanthocytosis.

Where is the VPS13A gene located?

Cytogenetic Location: 9q21

Molecular Location on chromosome 9: base pairs 79,792,360 to 80,032,398

The VPS13A gene is located on the long (q) arm of chromosome 9 at position 21.

The VPS13A gene is located on the long (q) arm of chromosome 9 at position 21.

More precisely, the VPS13A gene is located from base pair 79,792,360 to base pair 80,032,398 on chromosome 9.

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

Where can I find additional information about VPS13A?

You and your healthcare professional may find the following resources about VPS13A 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 VPS13A gene or gene products?

  • CHAC
  • CHOREIN
  • FLJ42030
  • KIAA0986
  • vacuolar protein sorting 13A
  • VP13A_HUMAN

See How are genetic conditions and genes named? in the Handbook.

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 VPS13A?

cell ; chorea ; DNA ; gene ; homologs ; mutation ; nucleotide ; population ; protein ; red blood cell ; sign ; symptom ; tissue ; trans-Golgi network

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (7 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: May 2008
Published: May 21, 2012