Function
Functions as a guanine exchange factor (GEF) for RAB26 and thus regulates autophagy of synaptic vesicles in axon terminal of motoneurons. Involved in the control of neuronal cell differentiation. Plays a role in angiogenesis through regulation of endothelial cells chemotaxis. Affects also the migration, adhesion, and matrix/bone degradation in macrophages and osteoclasts.
Gene References into Functions
- Results indicate that different mutations in PLEKHG5 lead to clinically diverse outcomes Charcot-Marie-Tooth disease or lower motor neuron disease affecting the function of neurons and glial cells. PMID: 23777631
- Recruitment of Syx to the cell membrane, the selective activation of Dia1 signaling, coupled with the suppression of ROCK and actin reorganization, plays a key role in establishing cell polarity during directed cell migration. PMID: 24126053
- This study identifies compound heterozygous PLEKHG5 mutations as the cause of recessive intermediate Charcot-Marie-Tooth disease. PMID: 23844677
- a novel means of regulating junctional Syx localization and function by phosphorylation-induced 14-3-3 binding and further support the importance of Syx function in maintaining stable cell-cell contacts. PMID: 23335514
- We identified a homozygous missense mutation (c.1940 T-->C [p.647 Phe-->Ser]) of the Pleckstrin homology domain-containing, family G member 5 gene, PLEKHG5, in families with lower motor neuron disease. PMID: 17564964
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Involvement in disease
Distal spinal muscular atrophy, autosomal recessive, 4 (DSMA4); Charcot-Marie-Tooth disease, recessive, intermediate type, C (CMTRIC)
Subcellular Location
Cytoplasm. Cytoplasm, perinuclear region. Cell membrane. Cell junction. Cell projection, lamellipodium.
Tissue Specificity
Predominantly expressed in the peripheral nervous system and brain. Highest expression is observed in heart, lung, kidney, testis and moderate expression is present in spleen, pancreas, skeletal muscle, ovary and liver. Weakly expressed in glioblastoma (G