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References

These sources were used to develop the Genetics Home Reference gene summary on the SPG20 gene.

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. PubMed citation
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. PubMed citation
Entrez Gene
Lu J, Rashid F, Byrne PC. The hereditary spastic paraplegia protein spartin localises to mitochondria. J Neurochem. 2006 Sep;98(6):1908-19. PubMed citation
OMIM: SPG20 GENE
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. PubMed citation
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. PubMed citation

Reviewed: January 2008

Published: June 17, 2013