SPG11 (Spatacsin, Colorectal Carcinoma-associated Protein, Spastic Paraplegia 11 Protein, KIAA1840, FLJ21439, DKFZp762B1512, FLJ21439)

Hereditary spastic paraplegias (HSPs) are genetically and phenotypically heterogeneous disorders. Spastic paraplegia with thinning of the corpus callosum (ARHSP-TCC) is a relatively frequent form of complicated hereditary spastic paraplegia (cHSP) in which mental retardation and muscle stiffness at onset are followed by slowly progressive paraparesis and cognitive deterioration. Mutations of the SPG11 gene encoding the spatacsin protein have been identified as a major cause of HSP-TCC. Spatacsin is a potential transmembrane protein that is phosphorylated upon DNA damage. It is expressed in all structures of the brain, with a high expression in the cerebellum. SPG11 mutations may occur more frequently in familial than sporadic forms of cHSP without TCC. Kjellin syndrome is found to be associated with mutations in not only the SPG15 gene but also SPG11 gene. Recent studies show Parkinsonism may initiate SPG11-linked HSP TCC and that SPG11 may cause juvenile Parkinsonism.\n\nApplications:\nSuitable for use in ELISA, Western Blot and Immunohistochemistry. Other applications not tested.\n\nRecommended Dilution:\nWestern Blot: 0.5-1ug/ml\nImmunohistochemistry (Formalin fixed paraffin embedded): 2.5ug/ml\nOptimal dilutions to be determined by the researcher.\n\nPositive Control:\nMouse Heart Tissue Lysate\n\nStorage and Stability:\nMay be stored at 4 degrees C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20 degrees C. Aliquots are stable for at least 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

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SPECIFICATIONS

Catalog Number

146385

Size

100ug

Applications

ELISA, IHC, WB

Hosts

Rabbit

Reactivities

Hum, Mouse, Rat

Form

Supplied as a liquid in PBS, 0.02% sodium azide.

P Type

Pab

Purity

Purified by immunoaffinity chromatography.

Isotype

IgG

References

1. Stevanin G, Azzedine H, Denora P, et al. Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nature Gen. 2007; 39:366372. 2. Paisan-Ruiz C, Dogu O, Yilmaz A, et al. SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia. Neurology 2008; 70:1384-9. 3. Crimella C, Arnoldi A, Crippa F, et al. Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum. J. Med. Genet. 2009; 46:345-51. 4. Orln H,Melberg A, Raininko R, et al. SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration. Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009; epub.

Additional Info

Recognizes human SPG11. Species Crossreactivity: mouse and rat.