Search Thermo Fisher Scientific
图: 1 / 4
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: 2.7.11.1; Eukaryotic translation initiation factor 2-alpha kinase 3; HsPEK; OTTHUMP00000207187; OTTHUMP00000207188; Pancreatic eIF2-alpha kinase; PRKR-like endoplasmic reticulum kinase
基因别名: AI427929; EIF2AK3; PEK; PERK; WRS
UniProt ID: (Human) Q9NZJ5, (Rat) Q9Z1Z1, (Mouse) Q9Z2B5
Entrez Gene ID: (Human) 9451, (Rat) 29702, (Mouse) 13666