| Primary Identifier | IPR028777 | Type | Family |
| Short Name | MAST1 |
| description | Microtubule-associated serine/threonine-protein kinase 1 (MAST1) belongs to the MAST family, which is characterised by containing a serine/threonine kinase domain and a PDZ (postsynaptic density protein-95/discs large/zona occludens-1) domain []. It links the dystrophin/utrophin network with microtubule filaments via the syntrophins []. MAST1 localises in the DAPC/UAPC, which is found within the postsynaptic region of the neuromuscular junction (NMJ) and central synapses []. The splice variant of its C-terminal affects its subcellular localisation within neurons []. Mutations in this protein cause mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCC-CH-CM) but they were also found in patients with autism and microcephaly, suggesting that MAST1 alterations are involved in a wide spectrum of neurodevelopmental diseases []. |
