Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, PLP1

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, PLP1

Definition : Molecular assay reagents intended to identify mutations in the proteolipid protein 1 (PLP1) gene, located at chromosome Xq22, which encodes for 2 protein isoforms: the proteolipid protein 1 and DM20. Proteolipid protein 1 and DM20 are the main proteins found in myelin of the central nervous system. Mutations at this locus have been identified in male patients with a PLP1 gene-related disorder of the central nervous system (CNS) myelination, resulting in a spectrum of diseases from the severe connatal Pelizaeus-Merzbacher disease (PMD) to the milder uncomplicated spastic paraplegia 2 (SPG2); intermediate severity disorders are classic PMD, PLP1 null syndrome, and complicated SPG2.

Entry Terms : "PLP1-Gene Related Disorders Gene Mutation Reagents" , "Spastic Paraplegia Type 2 (SPG2) Gene Mutation Reagents" , "Pelizaeus-Merzbacher Disease (PMD) Gene Mutation Reagents" , "Hereditary Spastic Paraplegia Gene Mutation Reagents" , "Hereditary Spastic Paraparesis Gene Mutation Reagents" , "Familial Spastic Paraplegia Gene Mutation Reagents" , "PLP1 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, PLP1"

UMDC code : 24669

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