Recombinant Human VRK1 Protein

VRK1 is a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. Serine/threonine protein kinases are tumor suppressor that controls the activity of AMP-activated protein kinase family members; thereby playing a role in various processes such as cell metabolism; cell polarity; apoptosis and DNA damage response. VRK1 contains 1 protein kinase domain and localizes to the nucleus. VRK1 gene is widely expressed in human tissues and has increased expression in actively dividing cells; such as those in testis; thymus; fetal liver; and carcinomas. As a serine/threonine kinase; VRK1 phosphorylates ‘Thr-18’ of p53/TP53 and may thereby prevent the interaction between p53/TP53 and MDM2. Defects in VRK1 are the cause of pontocerebellar hypoplasia type 1 (PCH1); also called pontocerebellar hypoplasia with infantile spinal muscular atrophy or pontocerebellar hypoplasia with anterior horn cell disease. PCH1 is characterized by an abnormally small cerebellum and brainstem; central and peripheral motor dysfunction from birth; gliosis and anterior horn cell degeneration resembling infantile spinal muscular atrophy.