PERK Proteins

Protein Information

EIF2AK3 (PERK) is one of 4 kinases that specifically phosphorylate Ser51 of translation initiation factor eIF2-alpha in response to various environmental stresses, leading to a decrease in protein sythesis. In the case of EIF2AK3, signaling is initiated by misfolded proteins in the ER. 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.

Synonyms

2.7.11.1; AI427929; EIF2AK3; eukaryotic translation initiation factor 2 alpha kinase 3; eukaryotic translation initiation factor 2-alpha kinase 3; HsPEK; OTTHUMP00000207187; OTTHUMP00000207188; Pancreatic eIF2-alpha kinase; PEK; Perk; PRKR-like endoplasmic reticulum kinase; WRS