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SPG11
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SPG11

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Reviewed April 2009

What is the official name of the SPG11 gene?

The official name of this gene is “spastic paraplegia 11 (autosomal recessive).”

SPG11 is the gene's official symbol. The SPG11 gene is also known by other names, listed below.

What is the normal function of the SPG11 gene?

The SPG11 gene provides instructions for making the protein spatacsin. Spatacsin is active (expressed) throughout the nervous system, although its exact function is unknown. Researchers speculate that it may help control the activity of particular genes (gene expression) or play a role in the transport (trafficking) of proteins. Spatacsin may also be involved in the maintenance of axons, which are specialized extensions of nerve cells (neurons) that transmit impulses throughout the nervous system.

How are changes in the SPG11 gene related to health conditions?

spastic paraplegia type 11 - caused by mutations in the SPG11 gene

More than 65 mutations in the SGP11 gene have been found to cause spastic paraplegia type 11. Most of these mutations change the structure of the spatacsin protein. The effect that the altered spatacsin protein has on the nervous system is not known. Researchers suggest that mutations in spatacsin may cause the signs and symptoms of spastic paraplegia type 11 by interfering with the protein's proposed role in the maintenance of axons.

Where is the SPG11 gene located?

Cytogenetic Location: 15q14

Molecular Location on chromosome 15: base pairs 42,642,185 to 42,743,167

The SPG11 gene is located on the long (q) arm of chromosome 15 at position 14.

The SPG11 gene is located on the long (q) arm of chromosome 15 at position 14.

More precisely, the SPG11 gene is located from base pair 42,642,185 to base pair 42,743,167 on chromosome 15.

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

Where can I find additional information about SPG11?

You and your healthcare professional may find the following resources about SPG11 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 SPG11 gene or gene products?

  • FLJ21439
  • KIAA1840
  • SPATACSIN
  • SPTCS_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 SPG11?

autosomal ; autosomal recessive ; axons ; cell ; expressed ; gene ; gene expression ; mutation ; nerve cell ; nervous system ; neuron ; paraplegia ; protein ; recessive ; sign ; symptom

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

See also Understanding Medical Terminology.

References (8 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: April 2009
Published: November 20, 2009