8.A.95.  The Transmembrane and TPR Repeat-containing Protein 3 (TMTC3) Family 

The human protein is involved in the positive regulation of proteasomal protein degradation in the endoplasmic reticulum (ER) and the control of the ER stress response (Racapé et al. 2011).  Additionally, it co-localizes with the GABA transporter, VGAT, in the presynaptic neuronal membrane where it plays a role in regulation of GABAergic inhibitory synapses. Mutations in humans, rats and flies give rise to efects in neuronal migration that cause brain malformations, which are associated with intellectual disability and epilepsy (Farhan et al. 2017). These mutations can also give rise to cobblestone lissencephaly (COB), a severe brain malformation in which overmigration of neurons and glial cells into the arachnoid space results in the formation of cortical dysplasia (Jerber et al. 2016).