Human Focal Adhesion Kinase 1, PTK2 ELISA Kit, 96T Drying & Desiccation Mutations in this gene are

Mutations in this gene are associated with the autosomal dominant disorder| encephalopathy| lethal| due to defective mitochondrial and peroxisomal fission (EMPF)

which alternatively utilize transferrin or non-transferrin iron delivery pathways

This protein plays a role in both non-homologous end joining and the completion of V(D)J recombination

Mutations in this gene cause hypomyelinating leukodystrophy-6 and autosomal dominant torsion dystonia-4

Plays a role in the activation of NF-kappa-B mediated by IL1B

Human Focal Adhesion Kinase 1, PTK2 ELISA Kit, 96T Drying & Desiccation Mutations in this gene areNon receptor protein tyrosine kinase that plays an essential role in regulating cell migration, adhesion, spreading, reorganization of the actin cytoskeleton, formation and disassembly of focal adhesions and cell protrusions, cell cycle progression, cell proliferation and apoptosis. Required for early embryonic development and placenta development. Required for embryonic angiogenesis, normal cardiomyocyte migration and proliferation, and normal heart