IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, PEX1
Definition : Molecular assay reagents intended to identify mutations in the peroxisome biogenesis factor 1 (PEX1) gene, located at chromosome 7q21-q22, which encodes for a member of the AAA ATPase family. This protein is cytoplasmic but is also associated with the peroxisomal membrane and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis. Mutations at this locus have been identified in patients with early-onset Zellweger syndrome spectrum, a continuum of peroxisome biogenesis disorders including three well differentiated forms, from severe to mild.
Entry Terms : "Peroxisome Biogenesis Disorder (PBD) Gene Mutation Reagents" , "Infantile Refsum Disease (IRD) Gene Mutation Reagents" , "Zellweger Syndrome (ZS) Gene Mutation Reagents" , "Zellweger Syndrome Spectrum (ZSS) Gene Mutation Reagents" , "Adrenoleukodystrophy Gene Mutation Reagents" , "Neonatal Adrenoleukodystrophy (NALD) Gene Mutation Reagents" , "PEX1 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, PEX1"
UMDC code : 24658