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.
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 32,063,552 to 32,157,637
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/6683))
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 32,063,552 to base pair 32,157,637 on chromosome 2.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about SPAST?
You and your healthcare professional may find the following resources about SPAST helpful.
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1160)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for SPAST (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6683%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28%28SPAST%5BTIAB%5D%29%20OR%20%28spastin%5BTIAB%5D%29%20OR%20%28SPG4%5BTIAB%5D%29%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201080%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/604277)
Research Resources - Tools for researchers
- HGNC Gene Family: AAA ATPases (ATPases associated with diverse cellular activities) (http://www.genenames.org/cgi-bin/genefamilies/set/413)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=11233)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/6683)
What other names do people use for the SPAST gene or gene products?
- spastic paraplegia 4 (autosomal dominant; spastin)
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding SPAST?
autosomal dominant ;
cell division ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Claudiani P, Riano E, Errico A, Andolfi G, Rugarli EI. Spastin subcellular localization is regulated through usage of different translation start sites and active export from the nucleus. Exp Cell Res. 2005 Oct 1;309(2):358-69. (http://www.ncbi.nlm.nih.gov/pubmed/16026783?dopt=Abstract)
- Depienne C, Fedirko E, Forlani S, Cazeneuve C, Ribaï P, Feki I, Tallaksen C, Nguyen K, Stankoff B, Ruberg M, Stevanin G, Durr A, Brice A. Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia. J Med Genet. 2007 Apr;44(4):281-4. Epub 2006 Nov 10. (http://www.ncbi.nlm.nih.gov/pubmed/17098887?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/6683)
- Roll-Mecak A, Vale RD. Structural basis of microtubule severing by the hereditary spastic paraplegia protein spastin. Nature. 2008 Jan 17;451(7176):363-7. doi: 10.1038/nature06482. (http://www.ncbi.nlm.nih.gov/pubmed/18202664?dopt=Abstract)
- Salinas S, Carazo-Salas RE, Proukakis C, Schiavo G, Warner TT. Spastin and microtubules: Functions in health and disease. J Neurosci Res. 2007 Sep;85(12):2778-82. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17348041?dopt=Abstract)
- Sanderson CM, Connell JW, Edwards TL, Bright NA, Duley S, Thompson A, Luzio JP, Reid E. Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners. Hum Mol Genet. 2006 Jan 15;15(2):307-18. Epub 2005 Dec 8. (http://www.ncbi.nlm.nih.gov/pubmed/16339213?dopt=Abstract)
- OMIM: SPASTIN (http://omim.org/entry/604277)
- Yip AG, Dürr A, Marchuk DA, Ashley-Koch A, Hentati A, Rubinsztein DC, Reid E. Meta-analysis of age at onset in spastin-associated hereditary spastic paraplegia provides no evidence for a correlation with mutational class. J Med Genet. 2003 Sep;40(9):e106. (http://www.ncbi.nlm.nih.gov/pubmed/12960222?dopt=Abstract)
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
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.