Disease-gene associations mined from literature

Literature associating CASK and cerebellar hypoplasia

CASK [ENSP00000367408]

Calcium/calmodulin-dependent serine protein kinase (MAGUK family); Multidomain scaffolding protein with a role in synaptic transmembrane protein anchoring and ion channel trafficking. Contributes to neural development and regulation of gene expression via interaction with the transcription factor TBR1. Binds to cell-surface proteins, including amyloid precursor protein, neurexins and syndecans. May mediate a link between the extracellular matrix and the actin cytoskeleton via its interaction with syndecan and with the actin/spectrin-binding protein 4.1; In the N-terminal section; belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. CaMK subfamily.

Synonyms:  CASK,  O14936,  Q5JS72,  Q5JS74,  Q5JS79 ...

Linkouts:  STRING  Pharos  UniProt  OMIM