DmX-like protein 2 (DMXL2)

DmX-like protein 2 (DMXL2, rabconnectin-3α, RC3) is a large vesicular scaffold protein containing 12 WD-repeat domains, primarily expressed in neuronal tissues, synaptic vesicles, and endocrine cells[1][2][3][4][5]. It regulates neurotransmitter release by scaffolding Rab3A GTPase regulatory proteins at synaptic ribbons, promoting the efficient exocytosis of synaptic vesicles and interacting with the vacuolar H^+^-ATPase (V-ATPase) to facilitate acidification and proper function of intracellular vesicles[2][4][6]. DMXL2 also participates in Notch signaling modulation and autophagic processes[3][5]. Pathogenic variants or reduced expression of DMXL2 cause complex multisystem disorders, including intellectual disability, defective puberty, neurodevelopmental defects, endocrine dysfunction, peripheral neuropathy, and are linked to rare genetic syndromes such as polyendocrine-polyneuropathy and candidate epileptic encephalopathies[3][4][5]. There are no known drugs directly targeting DMXL2, and it is not considered a classical pharmacologic therapeutic target[4][5].

Other names

DMXL2Rabconnectin-3αRC3KIAA0856DFNA71DEE81EIEE81PEPNSDmx like 2dmX-like protein 2rabconnectin-3

Not applicable; no known direct pharmacological agents