Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, PXMP3

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, PXMP3

Definition : Molecular assay reagents intended to identify mutations in the peroxisomal membrane protein 3, 35kDa (PXMP3) gene, located at chromosome 8q21.1, which encodes for a protein required for peroxisome biogenesis. The protein is thought to be involved in peroxisomal matrix protein import. This genetic mutation has been identified in patients with Zellweger syndrome spectrum, including three well-differentiated forms: Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), and infantile Refsum's disease (IRD).

Entry Terms : "Peroxisome Biogenesis Disorder (PBD) Gene Mutation Reagents" , "Infantile Refsum Disease (IRD) Gene Mutation Reagents" , "Adrenoleukodystrophy Gene Mutation Reagents" , "Neonatal Adrenoleukodystrophy (NALD) Gene Mutation Reagents" , "PXMP3 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, PXMP3"

UMDC code : 24931

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