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SPG11

{{Infobox_gene}}

Spatacsin is a protein that in humans is encoded by the SPG11 gene.{{cite journal | vauthors = Martínez Murillo F, Kobayashi H, Pegoraro E, Galluzzi G, Creel G, Mariani C, Farina E, Ricci E, Alfonso G, Pauli RM, Hoffman EP | title = Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15 | journal = Neurology | volume = 53 | issue = 1 | pages = 50–6 | date = July 1999 | pmid = 10408536 | doi = 10.1212/wnl.53.1.50 | s2cid = 26987441 }}{{cite journal | vauthors = Stevanin G, Santorelli FM, Azzedine H, Coutinho P, Chomilier J, Denora PS, Martin E, Ouvrard-Hernandez AM, Tessa A, Bouslam N, Lossos A, Charles P, Loureiro JL, Elleuch N, Confavreux C, Cruz VT, Ruberg M, Leguern E, Grid D, Tazir M, Fontaine B, Filla A, Bertini E, Durr A, Brice A | title = Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum | journal = Nature Genetics | volume = 39 | issue = 3 | pages = 366–72 | date = March 2007 | pmid = 17322883 | doi = 10.1038/ng1980 | s2cid = 970017 }}{{cite web | title = Entrez Gene: KIAA1840 KIAA1840| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=80208}}

Function

Spatacsin, in combination with the SPG15 protein, attaches the AP5 adaptor complex to the outside of late Endosomes or Lysosomes when the protein via which it binds is in a particular state.{{Cite journal |last1=Hirst |first1=Jennifer |last2=Hesketh |first2=Geoffrey G. |last3=Gingras |first3=Anne-Claude |last4=Robinson |first4=Margaret S. |date=2021-02-01 |title=Rag GTPases and phosphatidylinositol 3-phosphate mediate recruitment of the AP-5/SPG11/SPG15 complex |journal=The Journal of Cell Biology |volume=220 |issue=2 |pages=e202002075 |doi=10.1083/jcb.202002075 |issn=1540-8140 |pmc=7814351 |pmid=33464297}}

Pathology

Mutations of the SPG11 gene cause a rare form of spastic paraplegia, spastic paraplegia type 11.

References

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Further reading

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  • {{cite journal | vauthors = Hehr U, Bauer P, Winner B, Schule R, Olmez A, Koehler W, Uyanik G, Engel A, Lenz D, Seibel A, Hehr A, Ploetz S, Gamez J, Rolfs A, Weis J, Ringer TM, Bonin M, Schuierer G, Marienhagen J, Bogdahn U, Weber BH, Topaloglu H, Schols L, Riess O, Winkler J | title = Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia | journal = Annals of Neurology | volume = 62 | issue = 6 | pages = 656–65 | date = December 2007 | pmid = 18067136 | doi = 10.1002/ana.21310 | s2cid = 11979834 }}
  • {{cite journal | vauthors = Nagase T, Nakayama M, Nakajima D, Kikuno R, Ohara O | title = Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro | journal = DNA Research | volume = 8 | issue = 2 | pages = 85–95 | date = April 2001 | pmid = 11347906 | doi = 10.1093/dnares/8.2.85 | doi-access = free }}
  • {{cite journal | vauthors = Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S | title = Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library | journal = Gene | volume = 200 | issue = 1–2 | pages = 149–56 | date = October 1997 | pmid = 9373149 | doi = 10.1016/S0378-1119(97)00411-3 }}
  • {{cite journal | vauthors = Almenoff JS, Jurka J, Schoolnik GK | title = Induction of heat-stable enterotoxin receptor activity by a human Alu repeat | journal = The Journal of Biological Chemistry | volume = 269 | issue = 24 | pages = 16610–7 | date = June 1994 | doi = 10.1016/S0021-9258(19)89433-4 | pmid = 8206979 | doi-access = free }}
  • {{cite journal | vauthors = Maruyama K, Sugano S | title = Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides | journal = Gene | volume = 138 | issue = 1–2 | pages = 171–4 | date = January 1994 | pmid = 8125298 | doi = 10.1016/0378-1119(94)90802-8 }}

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External links

  • [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=spg11 GeneReviews/NCBI/NIH/UW entry on Spastic Paraplegia Type 11 SPG11-Related Hereditary Spastic Paraplegia with Thin Corpus Callosum]

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