Disease-gene associations mined from literature

Literature associating NEK1 and mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations

NEK1 [ENSP00000424757]

Serine/threonine-protein kinase Nek1; Phosphorylates serines and threonines, but also appears to possess tyrosine kinase activity (By similarity). Involved in DNA damage checkpoint control and for proper DNA damage repair. In response to injury that includes DNA damage, NEK1 phosphorylates VDAC1 to limit mitochondrial cell death. May be implicated in the control of meiosis (By similarity). Involved in cilium assembly.

Synonyms:  NEK1,  NEK1p,  hNEK1,  D6RBG5,  DKFZP564L2416 ...

Linkouts:  STRING  Pharos  UniProt  OMIM