AAK1 Polyclonal Antibody, 100ul Palm Micro Centrifuges disease:Defects in COL2A1 are a

disease:Defects in COL2A1 are a cause of primary avascular necrosis of femoral head (ANFH)

It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion

Mutations in this gene are associated with pontocerebellar hypoplasia type 10 (PCH10)

with a varying number of pentanucleotide repeats directly correlated with the extent of transcriptional activation by p53

AAK1 Polyclonal Antibody, 100ul Palm Micro Centrifuges disease:Defects in COL2A1 are aAdaptor related protein complex 2 (AP 2 complexes) functions during receptor mediated endocytosis to trigger clathrin assembly, interact with membrane bound receptors, and recruit encodytic accessory factors. AAK1 encodes a member (AP2 associated kinase 1) of the SNF1 subfamily of Ser Thr protein kinases. The protein interacts with and phosphorylates a subunit of the AP 2 complex, which promotes binding of AP 2 to sorting signals found in membrane