PLEKHG5( Human )

Entrez Gene 57449 Entrez Gene 57449
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].

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