SPART gene
spartin
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.
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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.
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Cytogenetic Location: 13q13.3, which is the long (q) arm of chromosome 13 at position 13.3
Molecular Location: base pairs 36,301,638 to 36,370,180 on chromosome 13 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)
Related Information
- 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
Related Information
- 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.
- 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.
- Lu J, Rashid F, Byrne PC. The hereditary spastic paraplegia protein spartin localises to mitochondria. J Neurochem. 2006 Sep;98(6):1908-19.
- 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.
- 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.
- OMIM: SPARTIN