- SPG20
Spastic paraplegia 20, spartin (Troyer syndrome), also known as SPG20, is a human
gene .cite web | title = Entrez Gene: SPG20 spastic paraplegia 20, spartin (Troyer syndrome)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23111| accessdate = ]PBB_Summary
section_title =
summary_text = 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 recessivespastic paraplegia 20 (Troyer syndrome).cite web | title = Entrez Gene: SPG20 spastic paraplegia 20, spartin (Troyer syndrome)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23111| accessdate = ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Cross HE, McKusick VA |title=The Troyer syndrome. A recessive form of spastic paraplegia with distal muscle wasting. |journal=Arch. Neurol. |volume=16 |issue= 5 |pages= 473–85 |year= 1967 |pmid= 6022528 |doi=
*cite journal | author=Hillier LD, Lennon G, Becker M, "et al." |title=Generation and analysis of 280,000 human expressed sequence tags. |journal=Genome Res. |volume=6 |issue= 9 |pages= 807–28 |year= 1997 |pmid= 8889549 |doi=
*cite journal | author=Nagase T, Ishikawa K, Miyajima N, "et al." |title=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. |journal=DNA Res. |volume=5 |issue= 1 |pages= 31–9 |year= 1998 |pmid= 9628581 |doi=
*cite journal | author=Auer-Grumbach M, Fazekas F, Radner H, "et al." |title=Troyer syndrome: a combination of central brain abnormality and motor neuron disease? |journal=J. Neurol. |volume=246 |issue= 7 |pages= 556–61 |year= 1999 |pmid= 10463356 |doi=
*cite journal | author=Patel H, Cross H, Proukakis C, "et al." |title=SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. |journal=Nat. Genet. |volume=31 |issue= 4 |pages= 347–8 |year= 2002 |pmid= 12134148 |doi= 10.1038/ng937
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Ciccarelli FD, Proukakis C, Patel H, "et al." |title=The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia. |journal=Genomics |volume=81 |issue= 4 |pages= 437–41 |year= 2003 |pmid= 12676568 |doi=
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Dunham A, Matthews LH, Burton J, "et al." |title=The DNA sequence and analysis of human chromosome 13. |journal=Nature |volume=428 |issue= 6982 |pages= 522–8 |year= 2004 |pmid= 15057823 |doi= 10.1038/nature02379
*cite journal | author=Liu M, Liu Y, Cheng J, "et al." |title=Transactivating effect of hepatitis C virus core protein: a suppression subtractive hybridization study. |journal=World J. Gastroenterol. |volume=10 |issue= 12 |pages= 1746–9 |year= 2004 |pmid= 15188498 |doi=
*cite journal | author=Colland F, Jacq X, Trouplin V, "et al." |title=Functional proteomics mapping of a human signaling pathway. |journal=Genome Res. |volume=14 |issue= 7 |pages= 1324–32 |year= 2004 |pmid= 15231748 |doi= 10.1101/gr.2334104
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Bakowska JC, Jenkins R, Pendleton J, Blackstone C |title=The Troyer syndrome (SPG20) protein spartin interacts with Eps15. |journal=Biochem. Biophys. Res. Commun. |volume=334 |issue= 4 |pages= 1042–8 |year= 2005 |pmid= 16036216 |doi= 10.1016/j.bbrc.2005.06.201
*cite journal | author=Lu J, Rashid F, Byrne PC |title=The hereditary spastic paraplegia protein spartin localises to mitochondria. |journal=J. Neurochem. |volume=98 |issue= 6 |pages= 1908–19 |year= 2006 |pmid= 16945107 |doi= 10.1111/j.1471-4159.2006.04008.x
*cite journal | author=Bakowska JC, Jupille H, Fatheddin P, "et al." |title=Troyer syndrome protein spartin is mono-ubiquitinated and functions in EGF receptor trafficking. |journal=Mol. Biol. Cell |volume=18 |issue= 5 |pages= 1683–92 |year= 2007 |pmid= 17332501 |doi= 10.1091/mbc.E06-09-0833PBB_Controls
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