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The protein encoded by this gene phosphorylates the alpha subunit of eukaryotic translation-initiation factor 2 (EIF2), leading to its inactivation, and thus to a rapid reduction of translational initiation and repression of global protein synthesis. It is a type I membrane protein located in the endoplasmic reticulum (ER), where it is induced by ER stress caused by malfolded proteins. Mutations in this gene are associated with Wolcott-Rallison syndrome. [provided by RefSeq, Jan 2010]
[中文简述(自动翻译):]  由该基因编码的蛋白质磷酸化的真核翻译起始因子2(的eIF2)的α亚基,导致其失活,从而迅速减少转译起始和全球蛋白合成的抑制的。它是一个I型膜位于内质网(ER)的蛋白质,它是由引起malfolded蛋白ER应激诱导。在这种基因突变与沃尔科特-Rallison综合征。 [由RefSeq的,2010年1月提供]
EIF2AK3基因(以及对应的蛋白质)的细胞分布位置:
EIF2AK3基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Wolcott-Rallison syndrome | 0.567057489 | 26 | 3 | BeFree_CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT |
| Progressive supranuclear palsy | 0.242367032 | 1 | 1 | CTD_human_GAD_GWASCAT |
| Status Epilepticus | 0.12 | 1 | 0 | CTD_human |
| Myocardial Ischemia | 0.12 | 1 | 0 | CTD_human |
| Reperfusion Injury | 0.08 | 1 | 0 | RGD |
| Anoxia | 0.00272435 | 1 | 0 | LHGDN |
| Hepatitis C | 0.00272435 | 1 | 0 | LHGDN |
| Herpes Simplex Infections | 0.00272435 | 1 | 0 | LHGDN |
| Infection | 0.00272435 | 1 | 0 | LHGDN |
| Diabetes | 0.002714419 | 10 | 0 | BeFree |
| Diabetes Mellitus | 0.002714419 | 10 | 0 | BeFree |
| Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
| Neonatal diabetes mellitus | 0.002171535 | 8 | 0 | BeFree |
| DIABETES MELLITUS, PERMANENT NEONATAL | 0.000814326 | 3 | 0 | BeFree |
| Diabetes Mellitus, Insulin-Dependent | 0.000542884 | 2 | 0 | BeFree |
| Ischemia | 0.000542884 | 2 | 0 | BeFree |
| Atrophic condition of skin | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of breast | 0.000271442 | 1 | 0 | BeFree |
| Fatty Liver | 0.000271442 | 1 | 0 | BeFree |
| Glioma | 0.000271442 | 1 | 0 | BeFree |
| Hypoglycemia | 0.000271442 | 1 | 0 | BeFree |
| Lupus Vulgaris | 0.000271442 | 1 | 0 | BeFree |
| Lupus Erythematosus, Discoid | 0.000271442 | 1 | 0 | BeFree |
| Lupus Erythematosus, Systemic | 0.000271442 | 1 | 0 | BeFree |
| Neoplasm Metastasis | 0.000271442 | 1 | 0 | BeFree |
| Memory impairment | 0.000271442 | 1 | 0 | BeFree |
| Prediabetes syndrome | 0.000271442 | 1 | 0 | BeFree |
| Lupus Erythematosus | 0.000271442 | 1 | 0 | BeFree |
| Skeletal dysplasia | 0.000271442 | 1 | 0 | BeFree |
| Hepatitis C, Chronic | 0.000271442 | 1 | 0 | BeFree |
| Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Pancreatic Ductal Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
| Liver carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Steatohepatitis | 0.000271442 | 1 | 0 | BeFree |
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