SPG11

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SPG11
Identifiers
Aliases SPG11, KIAA1840, ALS5, CMT2X, spastic paraplegia 11 (autosomal recessive)
External IDs MGI: 2444989 HomoloGene: 41614 GeneCards: SPG11
RNA expression pattern
PBB GE KIAA1840 203513 at tn.png

PBB GE KIAA1840 gnf1h02937 s at tn.png

PBB GE KIAA1840 gnf1h08131 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001160227
NM_025137

NM_145531
NM_172533

RefSeq (protein)

NP_001153699
NP_079413

NP_663506.2
NP_663506

Location (UCSC) Chr 15: 44.56 – 44.66 Mb Chr 2: 122.05 – 122.12 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Spatacsin is a protein that in humans is encoded by the SPG11 gene.[3][4][5]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ Martínez Murillo F, Kobayashi H, Pegoraro E, Galluzzi G, Creel G, Mariani C, Farina E, Ricci E, Alfonso G, Pauli RM, Hoffman EP (July 1999). "Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15". Neurology. 53 (1): 50–6. doi:10.1212/wnl.53.1.50. PMID 10408536. 
  4. ^ 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 (March 2007). "Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum". Nature Genetics. 39 (3): 366–72. doi:10.1038/ng1980. PMID 17322883. 
  5. ^ "Entrez Gene: KIAA1840 KIAA1840". 

Further reading[edit]

  • 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 (December 2007). "Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia". Annals of Neurology. 62 (6): 656–65. doi:10.1002/ana.21310. PMID 18067136. 
  • Nagase T, Nakayama M, Nakajima D, Kikuno R, Ohara O (April 2001). "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". DNA Research. 8 (2): 85–95. doi:10.1093/dnares/8.2.85. PMID 11347906. 
  • Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1-2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149. 
  • Almenoff JS, Jurka J, Schoolnik GK (June 1994). "Induction of heat-stable enterotoxin receptor activity by a human Alu repeat". The Journal of Biological Chemistry. 269 (24): 16610–7. PMID 8206979. 
  • Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1-2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298. 

External links[edit]