PLEKHG5, Official Symbol PLEKHG5provided by HGNC Official Full Name pleckstrin homology and RhoGEF domain containing G5provided by HGNC Primary source HGNC:HGNC:29105 See related Ensembl:ENSG00000171680 MIM:611101; AllianceGenome:HGNC:29105 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as Syx; Tech; DSMA4; CMTRIC; GEF720; ARHGEF45 Summary 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] Expression Broad expression in skin (RPKM 31.5), spleen (RPKM 14.2) and 15 other tissues See more Orthologs mouse all