DISEASES

Disease-gene associations mined from literature

Literature associating NEK1 and short-rib thoracic dysplasia 6 with or without polydactyly

NEK1 [ENSP00000424757]

Serine/threonine-protein kinase Nek1; Phosphorylates serines and threonines, but also appears to possess tyrosine kinase activity . 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,  H0Y8M6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM