PKHG5_HUMAN, Pleckstrin homology domain-containing family G member 5, PH domain-containing family G member 5, Guanine nucleotide exchange factor 720, GEF720.
This gene encodes a protein that activates the nuclear factor kappa B (NFKB1) signaling pathway. Mutations in this gene are associated with autosomal recessive distal spinal muscular atrophy. Multiple transcript variants encoding different isoforms have