Literature associating NEK1 and Beemer-Langer syndrome
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 ...