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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.
pleckstrin homology domain containing, family G (with RhoGef domain) member 5
, pleckstrin homology domain containing family G member 5
, pleckstrin homology domain-containing family G member 5-like
, NFkB activating protein
, PH domain-containing family G member 5
, guanine nucleotide exchange factor 720
, novel PH domain-containing protein
, pleckstrin homology domain-containing family G member 5
, synectin-binding guanine exchange factor
, RhoA-specific guanine exchange factor SYX1
, RhoA-specific guanine exchange factor SYX2
, synectin-binding RhoA exchange factor
, neuronal RhoA GEF protein
, transcript highly enriched in cortex and hippocampus