Pleckstrin homology domain containing, family G member 5 (PLEKHG5) is a protein that in humans is encoded by the PLEKHG5 gene.[1] Multiple transcript variants encoding different isoforms have been found for this gene.
Function
This gene encodes a protein that activates the nuclear factor kappa B (NFKB1) signaling pathway.[1]
Clinical significance
Mutations in the PLEKHG5 gene are associated with distal spinal muscular atrophy type 4.
References
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
