Aliases for PLEKHG5 Gene
External Ids 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 Domain Containing, Family G (With RhoGef Domain) Member 5) is a Protein Coding gene. Diseases associated with PLEKHG5 include autosomal recessive lower motor neuron disease with childhood onset and autosomal recessive intermediate charcot-marie-tooth disease type c. Among its related pathways are Signaling by FGFR and Signaling by GPCR. GO annotations related to this gene include phospholipid binding 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.