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MCCCHCM

Chr 19AD

microtubule associated serine/threonine kinase 1

Also known as: MCCCHCM, SAST

NCBI Gene: 22983 OMIM: 618273

The protein is a microtubule-associated serine/threonine kinase that associates with the cytoskeleton and binds beta-2-syntrophin and neuronal nitric oxide synthase through its PDZ domain, co-localizing with dystrophin- and utrophin-associated protein complexes in central nervous system vascular endothelium. Mutations cause mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, a neurodevelopmental disorder affecting multiple brain structures including the corpus callosum, cerebellum, and cerebral cortex. The condition follows autosomal dominant inheritance.

OMIM ResearchSummary from RefSeq, OMIM

This gene is a member of the microtubule-associated serine/threonine kinase (MAST) family. The protein encoded by this gene has an N-terminal serine/threonine kinase domain followed by a postsynaptic density protein-95/discs large/zona occludens-1 (PDZ) domain. In mouse and rat, the orthologous protein associates with the cytoskeleton and can bind both beta-2-syntrophin and neuronal nitric oxide synthase (nNOS) through its PDZ domain. In mouse and rat, this protein also co-localizes with dystrophin- and utrophin-associated protein complexes (DAPC/UAPC) in the vascular endothelium of the central nervous system. [provided by RefSeq, May 2017]

OMIM ResearchGenerating clinical summary…