Gene Symbol | PLEKHG5 |
Entrez Gene ID | 57449 |
Full Name | pleckstrin homology and RhoGEF domain containing G5 |
Synonyms | CMTRIC,DSMA4,GEF720,Syx,Tech |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 (3); Charcot-Marie-Tooth disease, recessive intermediate C, 615376 (3) |