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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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
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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