Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, GDAP1

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, GDAP1

Definition : Molecular assay reagents intended to identify mutations in the ganglioside-induced differentiation-associated protein 1 (GDAP1) gene, located at chromosome 8q13.3-q21.1, which encodes for the production of a ganglioside-induced differentiation-associated protein 1. This protein is made in several different types of cells throughout the body, particularly in cells of the nervous system. Mutations at this locus have been identified in patients with Charcot-Marie-Tooth neuropathy types 4A (CMT4A) and 2K.

Entry Terms : "Motor and Sensory Neuropathy Gene Mutation Detection Reagents" , "Charcot-Marie-Tooth Disease Type 4A (CMT4A) Gene Mutation Detection Reagents" , "Hereditary Neuropathy Gene Mutation Detection Reagents" , "GDAP1 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, GDAP1"

UMDC code : 24442

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