(Ganglioside-Induced Differentiation-Associated Protein 1 (GDAP1))
This gene encodes a member of the ganglioside-induced differentiation-associated protein family, which may play a role in a signal transduction pathway during neuronal development. Mutations in this gene have been associated with various forms of Charcot-Marie-Tooth Disease and neuropathy. Two transcript variants encoding different isoforms and a noncoding variant have been identified for this gene. [provided by RefSeq, Feb 2012].
Pla-Martín, Rueda, Estela, Sánchez-Piris, González-Sánchez, Traba, de la Fuente, Scorrano, Renau-Piqueras, Alvarez, Satrústegui, Palau: "Silencing of the Charcot-Marie-Tooth disease-associated gene GDAP1 induces abnormal mitochondrial distribution and affects Ca2+ homeostasis by reducing store-operated Ca2+ entry." in: Neurobiology of disease, Vol. 55, pp. 140-51, (2013) (PubMed).
Estela, Pla-Martín, Sánchez-Piris, Sesaki, Palau: "Charcot-Marie-Tooth-related gene GDAP1 complements cell cycle delay at G2/M phase in Saccharomyces cerevisiae fis1 gene-defective cells." in: The Journal of biological chemistry, Vol. 286, Issue 42, pp. 36777-86, (2011) (PubMed).