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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.
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Protein Aliases: 2.7.11.1; Eukaryotic translation initiation factor 2-alpha kinase 3; HsPEK; OTTHUMP00000207187; OTTHUMP00000207188; Pancreatic eIF2-alpha kinase; PRKR-like endoplasmic reticulum kinase
Gene Aliases: AI427929; EIF2AK3; PEK; PERK; WRS
UniProt ID: (Human) Q9NZJ5, (Rat) Q9Z1Z1, (Mouse) Q9Z2B5
Entrez Gene ID: (Human) 9451, (Rat) 29702, (Mouse) 13666
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