Description
Product Characteristics:
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]
Subcellular location: Cytoplasm
Synonyms: PKHG5_HUMAN, Pleckstrin homology domain-containing family G member 5, PH domain-containing family G member 5, Guanine nucleotide exchange factor 720, GEF720.
Target Information: 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]