GDAP1 gene encodes ganglioside-induced differentiation-associated protein 1, which is a member of the ganglioside-induced differentiation-associated protein family. GDAP1 is localised in the outer mitochondrial membrane and considered to regulate the mitochondrial network dynamics by promoting mitochondrial fission critical for maintaining the functional integrity of myelinated peripheral nerves. It may also be involved in signal transduction during neuronal development.
Mutations in GDAP1 gene is associated with Charcot-Marie-Tooth disease Type 4A (CMT4A) and Charcot-Marie-Tooth disease recessive intermediate A. In CMT4A, GDAP1 mutations cause the demyelination of the peripheral nerve axons and/or axonal degeneration, leading to impairment of axons that transmit nerve impulses. Thus, nerve cells slowly lose the ability to stimulate the muscles and transmit sensory signals.