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Proteintech
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Immunogen sequence: TDCDVEDGT MDGNDEGHSF ELCPSEASPY VRSRERTSSS IVFEDSGCDN ASSKEEPKTN RLHIGNHCAN KLTAFKPTSS KSSSEATLSI SPPRPTTLSL DLTKNTTEKL QPSSPKVYLY IQMQLCRKEN LKDWMNGRCT IEERERSVCL HIFLQIAEAV EFLHSKGLMH RDLKPSNIFF TMDDVVKVGD FGLVTAMDQD EEEQTVLTPM PAYARHTGQV GTKLYMSPEQ IHGNSYSHKV DIFSLGLILF ELLYPFSTQM ERVRTLTDVR NLKFPPLFTQ KYPCEYVMVQ DMLSPSPMER PEAINIIENA VFEDLDFPGK TVLRQRSRSL SSSGTKHSRQ SNNSHSPLPS N (767-1116 aa encoded by BC126354)
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; Protein tyrosine kinase EIF2AK3
基因别名: EIF2AK3; PEK; PERK; WRS
UniProt ID: (Human) Q9NZJ5
Entrez Gene ID: (Human) 9451