Gene Review:
PLEKHG5 - pleckstrin homology domain containing,...
Homo sapiens
Synonyms:
CMTRIC, DSMA4, GEF720, Guanine nucleotide exchange factor 720, KIAA0720, ...
- The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset. Maystadt, I., Rezsöhazy, R., Barkats, M., Duque, S., Vannuffel, P., Remacle, S., Lambert, B., Najimi, M., Sokal, E., Munnich, A., Viollet, L., Verellen-Dumoulin, C. Am. J. Hum. Genet. (2007)