Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, EIF2B5

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, EIF2B5

Definition : Molecular assay reagents intended to identify mutations in the eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa (EIF2B5) gene, located at chromosome 3q27, which encodes for a subunit of EIF2B. EIF2B catalyzes the exchange of eukaryotic initiation factor 2-bound guanosine diphosphate (GDP) for guanosine triphosphate (GTP). Mutations at this locus have been identified in patients with leukoencephalopathy and ovarioleukodystrophy (vanishing white matter leukodystrophy with ovarian failure) and Cree leukoencephalopathy.

Entry Terms : "Late-Onset Leukodystrophy Gene Mutation Detection Reagents" , "Infantile Leukodystrophy Gene Mutation Detection Reagents" , "Classic Childhood Leukodystrophy Gene Mutation Detection Reagents" , "Antenatal Leukodystrophy Gene Mutation Detection Reagents" , "EIF2B-Related Leukodystrophy Gene Mutation Detection Reagents" , "Leukoencephalopathy with Vanishing White Matter Gene Mutation Detection Reagents" , "EIF2B5 Gene Mutation Detection Reagents" , "Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter (CACH/VWM) Gene Mutation Detection R" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, EIF2B5"

UMDC code : 24396

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