SPG11

From Wikipedia, the free encyclopedia


KIAA1840
Identifiers
Symbol(s) KIAA1840; DKFZp762B1512; FLJ21439
External IDs HomoloGene41614
RNA expression pattern

More reference expression data

Orthologs
Human Mouse
Entrez 80208 n/a
Ensembl ENSG00000104133 n/a
Refseq NM_025137 (mRNA)
NP_079413 (protein)
n/a (mRNA)
n/a (protein)
Location Chr 15: 42.64 - 42.74 Mb n/a
Pubmed search [1] n/a

KIAA1840, also known as KIAA1840, is a human gene.[1]


[edit] References

[edit] Further reading

  • Hehr U, Bauer P, Winner B, et al. (2008). "Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.". Ann. Neurol. 62 (6): 656-65. doi:10.1002/ana.21310. PMID 18067136. 
  • Stevanin G, Santorelli FM, Azzedine H, et al. (2007). "Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.". Nat. Genet. 39 (3): 366-72. doi:10.1038/ng1980. PMID 17322883. 
  • 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. 
  • 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. 
  • Nagase T, Nakayama M, Nakajima D, et al. (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 Res. 8 (2): 85-95. PMID 11347906. 
  • Martínez Murillo F, Kobayashi H, Pegoraro E, et al. (1999). "Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15.". Neurology 53 (1): 50-6. PMID 10408536. 
  • Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.". Gene 200 (1-2): 149-56. PMID 9373149. 
  • Almenoff JS, Jurka J, Schoolnik GK (1994). "Induction of heat-stable enterotoxin receptor activity by a human Alu repeat.". J. Biol. Chem. 269 (24): 16610-7. PMID 8206979. 
  • Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene 138 (1-2): 171-4. PMID 8125298.