Gene Symbol | NEK1 |
Entrez Gene ID | 4750 |
Full Name | NIMA related kinase 1 |
Synonyms | NY-REN-55,SRPS2,SRPS2A,SRTD6 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. [provided by RefSeq, Dec 2010]. |
Disorder MIM: | |
Disorder Html: | Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 (3) |