Background: Phosphorylates serines and threonines, but also appears to possess tyrosine kinase activity. Implicated in the control of meiosis (By similarity). Involved in cilium assembly. Defects in NEK1 are the cause of short rib-polydactyly syndrome type 2 (SRPS2) [MIM:263520]. A lethal skeletal dysplasia characterized by markedly short ribs, short limbs, polydactyly, and multiple anomalies including a narrow thorax with hypoplastic lungs, extreme polysyndactyly, dysproportionate dwarfism, median cleft lip and palate, a ventriculoseptal defect and cystic kidneys. The radiographic hallmarks include shortened and horizontal ribs, squared scapulae and elevated clavicles with lateral kinking, normal spine and pelvis configuration, and shortening of the bones of all four extremities, with extreme reduction of tibial bone length.
Description: Rabbit polyclonal to NEK1
Immunogen: KLH conjugated synthetic peptide derived from NEK1
Specificity: ·Reacts with Human, Mouse and Rat.
·Isotype: IgG
Application: ·Western blotting: 1/100-500. Predicted Mol wt: 143 kDa;
·Immunohistochemistry (Paraffin/frozen tissue section): 1/100-200;
·Immunocytochemistry: 1/100;
·Immunoprecipitation: 1/50;
·ELISA: 1/500;
·Optimal working dilutions must be determined by the end user.