Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, PEX5

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, PEX5

Definition : Molecular assay reagents intended to identify mutations in the peroxisomal biogenesis factor 5 targeting signal 1 receptor (PEX5) (formerly PXR1) gene, located at chromosome 12p13.3, which encodes for a protein involved in peroxisomal protein import. This genetic mutation has been identified in patients with Zellweger syndrome.

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" , "PXR1 Gene Mutation Detection Reagents" , "PEX5 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, PEX5"

UMDC code : 24932

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