The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
ICC/IF: 1/100 - 1/500. Fix with formaldehyde of methanol. Do not fix with acetone. Permeabilization with Triton-X 100 recommended.
Not yet tested in other applications.
Optimal dilutions/concentrations should be determined by the end user.
Potential regulator of CDK5 activity via its interaction with CDK5R1. Negative regulator of centriole disengagement (licensing) which maintains centriole engagement and cohesion. Involved in regulation of mitotic spindle orientation (By similarity). Plays a role in the spindle checkpoint activation by acting as a transcriptional regulator of both BUBR1 and MAD2 promoter. Together with MAPRE1, it may promote microtubule polymerization, bundle formation, growth and dynamics at the plus ends.
Widely expressed. Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
Involvement in disease
Defects in CDK5RAP2 are the cause of microcephaly primary type 3 (MCPH3) [MIM:604804]. A disorder defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits.
Phosphorylated in vitro by CDK5.
Cytoplasm > cytoskeleton > centrosome. Golgi apparatus. Cytoplasm. Found in the pericentriolar region adhering to the surface of the centrosome and in the region of the centrosomal appendages. Localizes to microtubule plus ends.
Munkley J et al. The androgen receptor controls expression of the cancer-associated sTn antigen and cell adhesion through induction of ST6GalNAc1 in prostate cancer. Oncotarget6:34358-74 (2015).
Read more (PubMed: 26452038) »
Astuti D et al. Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility. Nat Genet44:277-84 (2012).
Read more (PubMed: 22306653) »