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PLEKHG5

MIM.611101 1p36

Thursday 1 November 2007

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