SPG20

Spastic paraplegia 20, spartin (Troyer syndrome)
File:PBB Protein SPG20 image.jpg PDB rendering based on 2dl1.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 2dl1​
Identifiers
Symbols	SPG20 ; KIAA0610; SPARTIN; TAHCCP1
External IDs	Template:OMIM5 Template:MGI HomoloGene: 32243
Gene ontology
RNA expression pattern
File:PBB GE SPG20 212526 at tn.png
File:PBB GE SPG20 216965 x at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Spastic paraplegia 20, spartin (Troyer syndrome), also known as SPG20, is a human gene.

This gene encodes a protein that contains a MIT (Microtubule Interacting and Trafficking molecule) domain. This protein may be involved in endosomal trafficking, microtubule dynamics, or both functions. Mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome).

Further reading

• Cross HE, McKusick VA (1967). "The Troyer syndrome. A recessive form of spastic paraplegia with distal muscle wasting". Arch. Neurol. 16 (5): 473–85. PMID 6022528.
• Hillier LD, Lennon G, Becker M; et al. (1997). "Generation and analysis of 280,000 human expressed sequence tags". Genome Res. 6 (9): 807–28. PMID 8889549.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Nagase T, Ishikawa K, Miyajima N; et al. (1998). "Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Res. 5 (1): 31–9. PMID 9628581.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Auer-Grumbach M, Fazekas F, Radner H; et al. (1999). "Troyer syndrome: a combination of central brain abnormality and motor neuron disease?". J. Neurol. 246 (7): 556–61. PMID 10463356.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Patel H, Cross H, Proukakis C; et al. (2002). "SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia". Nat. Genet. 31 (4): 347–8. doi:10.1038/ng937. PMID 12134148.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ciccarelli FD, Proukakis C, Patel H; et al. (2003). "The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia". Genomics. 81 (4): 437–41. PMID 12676568.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Dunham A, Matthews LH, Burton J; et al. (2004). "The DNA sequence and analysis of human chromosome 13". Nature. 428 (6982): 522–8. doi:10.1038/nature02379. PMID 15057823.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Liu M, Liu Y, Cheng J; et al. (2004). "Transactivating effect of hepatitis C virus core protein: a suppression subtractive hybridization study". World J. Gastroenterol. 10 (12): 1746–9. PMID 15188498.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Colland F, Jacq X, Trouplin V; et al. (2004). "Functional proteomics mapping of a human signaling pathway". Genome Res. 14 (7): 1324–32. doi:10.1101/gr.2334104. PMID 15231748.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Bakowska JC, Jenkins R, Pendleton J, Blackstone C (2005). "The Troyer syndrome (SPG20) protein spartin interacts with Eps15". Biochem. Biophys. Res. Commun. 334 (4): 1042–8. doi:10.1016/j.bbrc.2005.06.201. PMID 16036216.CS1 maint: Multiple names: authors list (link)
• Lu J, Rashid F, Byrne PC (2006). "The hereditary spastic paraplegia protein spartin localises to mitochondria". J. Neurochem. 98 (6): 1908–19. doi:10.1111/j.1471-4159.2006.04008.x. PMID 16945107.CS1 maint: Multiple names: authors list (link)
• Bakowska JC, Jupille H, Fatheddin P; et al. (2007). "Troyer syndrome protein spartin is mono-ubiquitinated and functions in EGF receptor trafficking". Mol. Biol. Cell. 18 (5): 1683–92. doi:10.1091/mbc.E06-09-0833. PMID 17332501.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)