NEK1

Description

The NEK1 (NIMA related kinase 1) is a protein-coding gene located on chromosome 4.

NEK1 is a human gene highly expressed in germ cells and involved in meiosis. It also plays a role in responding to DNA damage from radiation and defects in this gene can cause polycystic kidney disease. NEK1 is thought to be involved in amyotrophic lateral sclerosis. The gene was discovered by Project MinE researchers funded by the ALS Association through the Ice Bucket Challenge.

NEK1 is a kinase that phosphorylates serine and threonine residues, and also exhibits tyrosine kinase activity. It plays a role in DNA damage checkpoint control and repair, as well as limiting mitochondrial cell death in response to DNA damage. Additionally, NEK1 is implicated in meiosis control and cilium assembly.

NEK1 is also known as ALS24, NY-REN-55, OFD2, SRPS2, SRPS2A, SRTD6.

Associated Diseases

• Orofaciodigital syndrome type 2
• Amyotrophic lateral sclerosis, susceptibility to, 24
• Mohr syndrome
• Short-Rib thoracic dysplasia 6 with or without polydactyly
• Amyotrophic lateral sclerosis