Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, PEX10

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, PEX10

Definition : Molecular assay reagents intended to identify mutations in the peroxisome biogenesis factor 10 (PEX10) gene, located in 1p36.32 which encodes for a protein involved in import of peroxisomal matrix proteins. Mutations at this locus have been identified in patients with early-onset Zellweger syndrome spectrum, a continuum of peroxisome biogenesis disorders that include 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" , "PEX10 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, PEX10"

UMDC code : 24659

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