{"symbol":"PLEKHG5","synonyms":["TECH","SYX","DSMA4","CMTRIC","GEF720"],"name":"pleckstrin homology domain containing, family G (with RhoGef domain) member 5","description":"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]","ncbiEntrezGeneId":57449,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/57449","proteins":[{"symbol":"PKHG5_HUMAN","href":"/api/1.0/protein/PKHG5_HUMAN"}],"hgncRootFamilies":[{"name":"Pleckstrin homology domain containing (PLEKH)","href":"/api/1.0/gene_family/Pleckstrin+homology+domain+containing+%28PLEKH%29"}]}