DISEASES

Disease-gene associations mined from literature

Literature associating MAST1 and mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations

MAST1 [ENSP00000251472]

Microtubule-associated serine/threonine-protein kinase 1; Appears to link the dystrophin/utrophin network with microtubule filaments via the syntrophins. Phosphorylation of DMD or UTRN may modulate their affinities for associated proteins (By similarity); Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family.

Synonyms:  MAST1,  MAST1p,  hMAST1,  K7EME4,  MAST1-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM