Aliases for PLEKHG5 Gene
- Pleckstrin Homology And RhoGEF Domain Containing G5 2 3 5
- GEF720 2 3 4
- Pleckstrin Homology Domain Containing, Family G (With RhoGef Domain) Member 5 2 3
- Pleckstrin Homology Domain-Containing Family G Member 5 3 4
- Synectin-Binding Guanine Exchange Factor 2 3
- PH Domain-Containing Family G Member 5 3 4
- Guanine Nucleotide Exchange Factor 720 3 4
External Ids for PLEKHG5 Gene
Previous GeneCards Identifiers for PLEKHG5 Gene
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 been found for this gene. [provided by RefSeq, May 2012]
GeneCards Summary for PLEKHG5 Gene
PLEKHG5 (Pleckstrin Homology And RhoGEF Domain Containing G5) is a Protein Coding gene. Diseases associated with PLEKHG5 include Charcot-Marie-Tooth Disease, Recessive Intermediate C and Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4. Among its related pathways are Signaling by GPCR and p75 NTR receptor-mediated signalling. Gene Ontology (GO) annotations related to this gene include obsolete signal transducer activity and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is PLEKHG7.
UniProtKB/Swiss-Prot Summary for PLEKHG5 Gene
Functions as a guanine exchange factor (GEF) for RAB26 and thus regulates autophagy of synaptic vesicles in axon terminal of motoneurons (By similarity). Involved in the control of neuronal cell differentiation (PubMed:11704860). Plays a role in angiogenesis through regulation of endothelial cells chemotaxis. Affects also the migration, adhesion, and matrix/bone degradation in macrophages and osteoclasts (PubMed:23777631).