IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, SPG7
Definition : Molecular assay reagents intended to identify mutations in the spastic paraplegia 7, paraplegin (SPG7) gene, located at chromosome 16q24.3, which encodes for a subunit of the m-AAA protease that is localized to the inner mitochondrial membrane and functions as a chaperone to facilitate protein folding as well as proteolytic degradation of unfolded proteins. This inherited genetic mutation has been identified in patients with spastic paraplegia type 7 (HSP7).
Entry Terms : "Hereditary Spastic Paraplegia Type 7 Gene Mutation Reagents" , "Hereditary Spastic Paraparesis Gene Mutation Reagents" , "Familial Spastic Paraplegia Gene Mutation Reagents" , "SPG7 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, SPG7"
UMDC code : 24979