Description
Product Characteristics: Strumpellin Antibody: Strumpellin is a ubiquitously expressed, multi-transmembrane and spectrin-repeat-containing protein. It is named for Strumpell disease, a progressive upper-motor neurodegenerative disease termed hereditary spastic paraplegia (HSP). The Strumpellin gene maps to the eighth HSP locus (SPG8) on chromosome 8p24.13. Three families liked to this locus have mutations in the Strumpellin gene, rescue studies of zebrafish with decreased Strumpellin expression with Strumpellin mRNA containing these mutations showed impaired normal function of this protein. Recent studies suggest that Strumpellin may also be involved in protein aggregation diseases.
Target Information: This gene encodes a 134 kDa protein named strumpellin that is predicted to have multiple transmembrane domains and a spectrin-repeat-containing domain. This ubiquitously expressed gene has its highest expression in skeletal muscle. The protein is named for Strumpell disease\, a form of hereditary spastic paraplegia (HSP). Spastic paraplegias are a diverse group of disorders in which the autosomal dominant forms are characterized by progressive, lower extremity spasticity caused by axonal degeneration in the terminal portions of the longest descending and ascending corticospinal tracts. More than 30 loci (SPG1-33) have been implicated in hereditary spastic paraplegia diseases. [provided by RefSeq, Aug 2009]