Species Human Entrez 57449 | Human Mouse Ensembl ENSG00000171680 | |
Aliases PLEKHG5, CMTRIC, DSMA4, GEF720, Syx, Tech, pleckstrin homology and RhoGEF domain containing G5 External IDs MGI: 2652860 HomoloGene: 10768 GeneCards: PLEKHG5 | ||
Pleckstrin homology domain containing, family G member 5 (PLEKHG5) is a protein that in humans is encoded by the PLEKHG5 gene. Multiple transcript variants encoding different isoforms have been found for this gene.
Contents
Function
This gene encodes a protein that activates the nuclear factor kappa B (NFKB1) signaling pathway.
Clinical significance
Mutations in the PLEKHG5 gene are associated with distal spinal muscular atrophy type 4.
References
PLEKHG5 Wikipedia(Text) CC BY-SA