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PLEKHG5 - pleckstrin homology and RhoGEF domain containing G5

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]

NCBI Orthologs

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Species Gene Architecture aa