SPG11

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Spastic paraplegia 11 (autosomal recessive)
Identifiers
Symbols SPG11 ; KIAA1840
External IDs OMIM610844 HomoloGene41614 GeneCards: SPG11 Gene
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 80208 214585
Ensembl ENSG00000104133 ENSMUSG00000033396
UniProt Q96JI7 Q3UHA3
RefSeq (mRNA) NM_001160227 NM_145531
RefSeq (protein) NP_001153699 NP_663506
Location (UCSC) Chr 15:
44.85 – 44.96 Mb
Chr 2:
122.05 – 122.12 Mb
PubMed search [1] [2]

Spatacsin is a protein that in humans is encoded by the SPG11 gene.[1][2][3]


References[edit]

  1. ^ Martinez Murillo F, Kobayashi H, Pegoraro E, Galluzzi G, Creel G, Mariani C, Farina E, Ricci E, Alfonso G, Pauli RM, Hoffman EP (Aug 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. 
  2. ^ 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 (Feb 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. 
  3. ^ "Entrez Gene: KIAA1840 KIAA1840". 

External links[edit]

Further reading[edit]