Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, PEX6

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, PEX6

Definition : Molecular assay reagents intended to identify mutations in the peroxisomal biogenesis factor 6 (PEX6) gene, located at chromosome 6p21.1, which encodes for a protein involved in import of peroxisomal matrix proteins. Mutations at this locus have been identified in patients with Zellweger syndrome (ZS), infantile Refsum disease (IRD), neonatal adrenoleukodystrophy (NALD), and classic rhizomelic chondrodysplasia punctata.

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" , "PEX6 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, PEX6"

UMDC code : 24661

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