PLEKHG5

Pleckstrin homology domain containing, family G member 5 (PLEKHG5) is a is_associated_with::protein that in humans is encoded by the PLEKHG5 is_associated_with::gene. 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 (is_associated_with::NFKB1) signaling pathway.

Clinical significance
is_associated_with::Mutations in the PLEKHG5 gene are associated with is_associated_with::distal spinal muscular atrophy type 4.