Aliases for PLEKHG5 Gene
- Pleckstrin Homology And RhoGEF Domain Containing G5 2 3 5
- Pleckstrin Homology Domain Containing, Family G (With RhoGef Domain) Member 5 2 3
- Synectin-Binding Guanine Exchange Factor 2 3
- Guanine Nucleotide Exchange Factor 720 3 4
- PH Domain-Containing Family G Member 5 3 4
- GEF720 3 4
- Pleckstrin Homology Domain-Containing Family G Member 5 3
- Novel PH Domain-Containing Protein 3
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 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 and Charcot-Marie-Tooth Disease, Recessive Intermediate C. Among its related pathways are p75 NTR receptor-mediated signalling and RET signaling. GO annotations related to this gene include signal transducer activity and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is PLEKHG6.
UniProtKB/Swiss-Prot for PLEKHG5 Gene
Guanine nucleotide exchange factor that activates RHOA and maybe the NF-kappa-B signaling pathway. Involved in the control of neuronal cell differentiation. Plays a role in angiogenesis through regulation of endothelial cells chemotaxis.