Gene: NEK1

Alternate names for this Gene: ALS24|NY-REN-55|SRPS2|SRPS2A|SRTD6

Gene Summary: The protein encoded by this gene is a serine/threonine kinase involved in cell cycle regulation. The encoded protein is found in a centrosomal complex with FEZ1, a neuronal protein that plays a role in axonal development. Defects in this gene are a cause of polycystic kidney disease (PKD). Several transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 4

Location in Chromosome : 4q33

Description of this Gene: NIMA related kinase 1

Type of Gene: protein-coding

rs199947197 in NEK1 gene and Majewski Syndrome PMID 22499340 2012 NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.

PMID 21211617 2011 NEK1 mutations cause short-rib polydactyly syndrome type majewski.

rs1131690775 in NEK1 gene and Motor Neuron Disease PMID 28089114 2017 Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.

rs12647126 in NEK1 gene and Schizophrenia PMID 31268507 2019 Association of Schizophrenia Risk With Disordered Niacin Metabolism in an Indian Genome-wide Association Study.