Literature associating PLEKHG5 and autosomal recessive distal hereditary motor neuronopathy
PLEKHG5 [ENSP00000439625]
Pleckstrin homology domain-containing family G member 5; Functions as a guanine exchange factor (GEF) for RAB26 and thus regulates autophagy of synaptic vesicles in axon terminal of motoneurons (By similarity). 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 .
Synonyms: PLEKHG5, PLEKHG5p, hPLEKHG5, O94827, Q5SY18 ...