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SPAST

SPAST

Reviewed January 2008

What is the official name of the SPAST gene?

The official name of this gene is “spastin.”

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

The SPAST gene provides instructions for producing a protein called spastin, which is a member of the AAA protein family. This protein family plays a role in many cellular activities, including regulation of cell components and proteins. Spastin is found throughout the body, particularly in certain nerve cells (neurons). The spastin protein plays a role in the function of microtubules, which are rigid, hollow fibers that make up the cell's structural framework (the cytoskeleton). Microtubules are also involved in transporting cell components and facilitating cell division. Spastin likely helps restrict microtubule length and disassemble microtubule structures when they are no longer needed.

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

spastic paraplegia type 4 - caused by mutations in the SPAST gene

More than 240 mutations in the SPAST gene have been found to cause spastic paraplegia type 4. Most of these mutations alter the structure or disrupt the production of spastin, impairing its ability to regulate microtubules. The inability of the microtubules to transport cell components, especially in nerve cells, is thought to contribute to the major signs and symptoms of spastic paraplegia type 4.

Mutation in the SPAST gene account for approximately 40 percent of autosomal dominant hereditary spastic paraplegias.

Where is the SPAST gene located?

Cytogenetic Location: 2p24-p21

Molecular Location on chromosome 2: base pairs 32,063,591 to 32,157,636

The SPAST gene is located on the short (p) arm of chromosome 2 between positions 24 and 21.

The SPAST gene is located on the short (p) arm of chromosome 2 between positions 24 and 21.

More precisely, the SPAST gene is located from base pair 32,063,591 to base pair 32,157,636 on chromosome 2.

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

Where can I find additional information about SPAST?

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

  • ADPSP
  • FSP2
  • KIAA1083
  • SPAST_HUMAN
  • spastic paraplegia 4 (autosomal dominant; spastin)
  • SPG4

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 SPAST?

autosomal ; autosomal dominant ; cell ; cell division ; cytoskeleton ; gene ; hereditary ; microtubule ; mutation ; paraplegia ; protein

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: January 2008
Published: August 25, 2014