SPG11

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SPG11
Identifiers
Aliases SPG11, KIAA1840, ALS5, CMT2X, spastic paraplegia 11 (autosomal recessive)
External IDs MGI: 2444989 HomoloGene: 41614 GeneCards: 80208
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_001153699.1
NP_079413.3

NP_663506.2

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. ^ 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. 
  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 (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. 
  5. ^ "Entrez Gene: KIAA1840 KIAA1840". 

External links[edit]

Further reading[edit]