DMXL2

DMXL2 (Dmx Like 2) is a protein that in humans is encoded by the DMXL2 gene. This protein is a member of the Rabconnectin family, which plays a crucial role in neurotransmitter release. Mutations in this gene have been associated with Warburg Micro syndrome and MEHMO syndrome.

Function

The DMXL2 protein is involved in the regulation of neurotransmission and synaptic vesicle trafficking. It is a component of the Rab3 GTPase-activating protein (GAP) complex, which is essential for the normal function of neurons. The Rab3 GAP complex is a key regulator of neurotransmitter release, controlling the availability of active Rab3 for exocytosis.

Clinical significance

Mutations in the DMXL2 gene have been linked to several neurodevelopmental disorders. These include Warburg Micro syndrome, a rare autosomal recessive disorder characterized by microcephaly, ocular abnormalities, hypotonia, and intellectual disability. DMXL2 mutations have also been associated with MEHMO syndrome, a rare X-linked intellectual disability syndrome characterized by epilepsy, hypogonadism, microcephaly, mental retardation, and obesity.

See also

• Rabconnectin
• Warburg Micro syndrome
• MEHMO syndrome