URL of this page: https://medlineplus.gov/genetics/gene/spart/

SPART gene

spartin
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Normal Function

The SPART 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.

Health Conditions Related to Genetic Changes

Troyer syndrome

One mutation has been identified in people with Troyer syndrome. This mutation deletes a DNA building block (nucleotide) in the SPART 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.

More About This Health Condition

Other Names for This Gene

  • KIAA0610
  • SPARTIN
  • spastic paraplegia 20
  • spastic paraplegia 20 (Troyer syndrome)
  • spastic paraplegia 20, spartin (Troyer syndrome)
  • SPG20
  • SPG20_HUMAN
  • TAHCCP1
  • trans-activated by hepatitis C virus core protein 1

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Research Resources

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. Citation on PubMed
  • 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. Citation on PubMed or Free article on PubMed Central
  • Lu J, Rashid F, Byrne PC. The hereditary spastic paraplegia protein spartin localises to mitochondria. J Neurochem. 2006 Sep;98(6):1908-19. Citation on PubMed
  • 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. Citation on PubMed
  • 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. Citation on PubMed
From Genetics Home Reference

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