Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

SPG20

Reviewed January 2008

What is the official name of the SPG20 gene?

The official name of this gene is “spastic paraplegia 20 (Troyer syndrome).”

SPG20 is the gene's official symbol. The SPG20 gene is also known by other names, listed below.

What is the normal function of the SPG20 gene?

The SPG20 gene provides instructions for producing a protein called spartin, whose function is not entirely understood. Researchers believe that spartin may be involved in a variety of cell functions, from breaking down proteins to transporting materials from the cell surface into the cell (endocytosis). Spartin is found in a wide range of body tissues, including the nervous system.

How are changes in the SPG20 gene related to health conditions?

Troyer syndrome - caused by mutations in the SPG20 gene

One mutation has been identified in people with Troyer syndrome. This mutation deletes a DNA building block (nucleotide) in the SPG20 gene. Specifically, this mutation deletes the nucleotide adenosine at position 1110 in the gene, written as 1110delA. This mutation results in an abnormally shortened, nonfunctioning spartin protein. It is unclear how this mutation causes the signs and symptoms of Troyer syndrome.

Where is the SPG20 gene located?

Cytogenetic Location: 13q13.3

Molecular Location on chromosome 13: base pairs 36,301,637 to 36,370,179

The SPG20 gene is located on the long (q) arm of chromosome 13 at position 13.3.

The SPG20 gene is located on the long (q) arm of chromosome 13 at position 13.3.

More precisely, the SPG20 gene is located from base pair 36,301,637 to base pair 36,370,179 on chromosome 13.

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 SPG20?

You and your healthcare professional may find the following resources about SPG20 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 SPG20 gene or gene products?

  • KIAA0610
  • SPARTIN
  • spastic paraplegia 20
  • spastic paraplegia 20, spartin (Troyer syndrome)
  • SPG20_HUMAN
  • TAHCCP1
  • trans-activated by hepatitis C virus core protein 1

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 SPG20?

cell ; DNA ; endocytosis ; gene ; hepatitis ; mutation ; nervous system ; nucleotide ; paraplegia ; protein ; syndrome ; virus

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Bakowska JC, Jenkins R, Pendleton J, Blackstone C. The Troyer syndrome (SPG20) protein spartin interacts with Eps15. Biochem Biophys Res Commun. 2005 Sep 9;334(4):1042-8. (http://www.ncbi.nlm.nih.gov/pubmed/16036216?dopt=Abstract)
  • Bakowska JC, Jupille H, Fatheddin P, Puertollano R, Blackstone C. Troyer syndrome protein spartin is mono-ubiquitinated and functions in EGF receptor trafficking. Mol Biol Cell. 2007 May;18(5):1683-92. Epub 2007 Mar 1. (http://www.ncbi.nlm.nih.gov/pubmed/17332501?dopt=Abstract)
  • Lu J, Rashid F, Byrne PC. The hereditary spastic paraplegia protein spartin localises to mitochondria. J Neurochem. 2006 Sep;98(6):1908-19. (http://www.ncbi.nlm.nih.gov/pubmed/16945107?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/23111)
  • Patel H, Cross H, Proukakis C, Hershberger R, Bork P, Ciccarelli FD, Patton MA, McKusick VA, Crosby AH. SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. Nat Genet. 2002 Aug;31(4):347-8. Epub 2002 Jul 22. (http://www.ncbi.nlm.nih.gov/pubmed/12134148?dopt=Abstract)
  • Robay D, Patel H, Simpson MA, Brown NA, Crosby AH. Endogenous spartin, mutated in hereditary spastic paraplegia, has a complex subcellular localization suggesting diverse roles in neurons. Exp Cell Res. 2006 Sep 10;312(15):2764-77. Epub 2006 May 13. (http://www.ncbi.nlm.nih.gov/pubmed/16781711?dopt=Abstract)
  • OMIM: SPG20 GENE (http://omim.org/entry/607111)

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: January 2008
Published: December 16, 2014