SPG11 Antibody

Catalog Number:

24836

Amount:

100μg

Price:

$319

Swiss-Prot No:

Swiss-Prot:Q96JI7
Gene ID:80208

Form of Antibody:

Supplied in PBS containing 0.02% sodium azide.

Storage/Stability:

Immunogen:

Raised against a 15 amino acid peptide of human SPG11.

Purification:

Affinity chromatography purified via peptide column

Specificity/Sensitivity:

Applications:

ELISA WB IHC

Background:

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.

References:

appl_detail:

Datasheet PDF