PLEKHG5
MIM.611101 1p36
Wild-type PLEKHG5 activated the nuclear factor kappa B (NF kappa B) signaling pathway and that both the stability and the intracellular location of mutant PLEKHG5 protein were altered, severely impairing the NF kappa B transduction pathway.
Pathology
The nuclear factor kappaB-activator gene PLEKHG5 is mutated in autosomal recessive distal spinal muscular atrophy type 4 (DSMA4) (MIM.611067) at 1p36, a form of autosomal recessive lower motor neuron disease with childhood onset
- loss of PLEKHG5 function and aggregate formation may contribute to neurotoxicity in this form of LMND.
References
Maystadt I, Rezsohazy R, Barkats M, Duque S, Vannuffel P, Remacle S, Lambert B, Najimi M, Sokal E, Munnich A, Viollet L, Verellen-Dumoulin C. The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset. Am J Hum Genet. 2007 Jul;81(1):67-76. PMID: #17564964#