Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, TIMM8A

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, TIMM8A

Definition : Molecular assay reagents intended to identify mutations in the translocase of inner mitochondrial membrane 8 homologue A (yeast) (TIMM8A) gene, located at chromosome Xq22.1, which is a mitochondrial intermembrane chaperone that participates in the import and insertion of multipass transmembrane proteins into the mitochondrial inner membrane. This X-linked inherited genetic mutation has been identified in patients with Mohr-Tranebjaerg syndrome, also known as dystonic-deafness syndrome or X-linked recessive deafness type 1.

Entry Terms : "Mohr-Tranebjaerg Syndrome Gene Mutation Reagents" , "Deafness-Dystonia Syndrome Gene Mutation Reagents" , "Syndromic Deafness Gene Mutation Reagents" , "Deafness-Dystonia-Optic Neuronopathy (DDON) Syndrome Gene Mutation Reagents" , "Congenital Deafness Gene Mutation Reagents" , "Deafness Gene Mutation Reagents" , "TIMM8A Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, TIMM8A"

UMDC code : 24994

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