Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, C10orf2

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, C10orf2

Definition : Molecular assay reagents intended to identify mutations in the chromosome 10 open reading frame C10orf2 (formerly PEO, PEO1, PEOA3) gene, located at chromosome 10q23.3-q24.3, which encodes for a mitochondrial protein that colocalizes with mtDNA in mitochondrial nucleoids and is thought to be necessary for lifetime maintenance of mtDNA integrity. Mutations at this locus have been identified in patients with progressive external ophthalmoplegia (paralysis of the eye muscles).

Entry Terms : "Progressive External Ophthalmoplegia (PEO) Gene Mutation Reagents" , "PEOA3 Gene Mutation Anomaly Reagents" , "PEO1 Gene Mutation Anomaly Reagents" , "PEO Gene Mutation Detection Reagents" , "IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, PEO" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, PEO"

UMDC code : 24657

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