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Official Full Name: pleckstrin homology and RhoGEF domain containing G5
Also known as: Syx; Tech; DSMA4; CMTRIC; GEF720
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.