pleckstrin homology and RhoGEF domain containing G5
Alias
CMTRIC | DSMA4 | GEF720 | Syx | Tech
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].