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PLEKHG5
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]
Protein class
Disease related genes, Human disease related genes
Predicted location
Intracellular
Single cell type specificity
Cell type enhanced (Excitatory neurons)
Immune cell specificity
Not detected in immune cells
Cell line specificity
Cell line enhanced (NB-4, TIME)
Interaction
Interacts with GIPC1/synectin and RHOA.
More Types Infomation
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- Species Reactivity: Human
- Application: WB
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For Research Use Only. Not For Clinical Use.