PERK, a member of the GCN2 subfamily of Ser/Thr protein kinases, phosphorylates the alpha subunit of eukaryotic translation-initiation factor 2 (EIF2), leading to its inactivation and thus to a rapid reduction of translational initiation and repression of global protein synthesis. It likely serves as a critical effector of unfolded protein response (UPR)-induced G1 growth arrest due to the loss of cyclin D1 Perturbation in protein folding in the endoplasmic reticulum (ER) promotes reversible dissociation from HSPA5/BIP and oligomerization, resulting in transautophosphorylation and kinase activity induction Expression of this Type I membrane protein is ubiquitous, with highest levels seen in secretory tissues. Defects in EIF2AK3 are the cause of Wolcott-Rallison syndrome (WRS), also known as multiple epiphyseal dysplasia with early-onset diabetes mellitus. WRS is a rare autosomal recessive disorder, characterized by permanent neonatal or early infancy insulin-dependent diabetes and, at a later age, epiphyseal dysplasia, osteoporosis, growth retardation and other multisystem manifestations, such as hepatic and renal dysfunctions, mental retardation and cardiovascular abnormalities.
Clicking the images or links will redirect you to a website hosted by BenchSci that provides third-party
scientific content. Neither the content nor the BenchSci technology and processes for
selection have been evaluated by us; we are providing them as-is and without warranty of any kind,
including for use or application of the Thermo Fisher Scientific products presented.