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This gene encodes amyloid precursor- like protein 2 (APLP2), which is a member of the APP (amyloid precursor protein) family including APP, APLP1 and APLP2. This protein is ubiquitously expressed. It contains heparin-, copper- and zinc- binding domains at the N-terminus, BPTI/Kunitz inhibitor and E2 domains in the middle region, and transmembrane and intracellular domains at the C-terminus. This protein interacts with major histocompatibility complex (MHC) class I molecules. The synergy of this protein and the APP is required to mediate neuromuscular transmission, spatial learning and synaptic plasticity. This protein has been implicated in the pathogenesis of Alzheimer's disease. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
[中文简述(自动翻译):]  这个基因编码的淀粉样蛋白前驱物样蛋白2(APLP2),它是的APP(淀粉样前体蛋白)家族,包括APP,APLP1和APLP2的成员。这种蛋白质被普遍表达。它包含肝素,铜和在C末端锌在N-末端,BPTI / Kunitz结构抑制剂和E2结构域在中间区域结合结构域,以及跨膜和胞内结构域。这种蛋白质与主要组织相容性复合体(MHC)I类分子相互作用。这种蛋白质和协同应用程序是需要调解神经肌肉传导,空间学习和突触可塑性。这种蛋白已经牵涉于阿尔茨海默氏病的发病机制。编码不同亚型多重选择性剪接转录变异体已经确定。 [由RefSeq的,2011年8月提供]
APLP2基因(以及对应的蛋白质)的细胞分布位置:
APLP2基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Nerve Degeneration | 0.12 | 1 | 0 | CTD_human |
Myocardial Ischemia | 0.12 | 1 | 0 | CTD_human |
Alzheimer's Disease | 0.08272435 | 2 | 0 | LHGDN_RGD |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
Neuroblastoma | 0.000542884 | 2 | 0 | BeFree |
Pancreatic carcinoma | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of pancreas | 0.000542884 | 2 | 0 | BeFree |
Central neuroblastoma | 0.000542884 | 2 | 0 | BeFree |
Carcinoid Tumor | 0.000271442 | 1 | 0 | BeFree |
Carotid Artery Thrombosis | 0.000271442 | 1 | 0 | BeFree |
Fatty Liver | 0.000271442 | 1 | 0 | BeFree |
Glioblastoma | 0.000271442 | 1 | 0 | BeFree |
Glioma | 0.000271442 | 1 | 0 | BeFree |
Liver neoplasms | 0.000271442 | 1 | 0 | BeFree |
Neoplasm Metastasis | 0.000271442 | 1 | 0 | BeFree |
Pancreatic Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Cerebral Thrombosis | 0.000271442 | 1 | 0 | BeFree |
Senile Plaques | 0.000271442 | 1 | 0 | BeFree |
Carcinoid tumor no ICD-O subtype | 0.000271442 | 1 | 0 | BeFree |
Non-alcoholic Fatty Liver Disease | 0.000271442 | 1 | 0 | BeFree |
Secondary malignant neoplasm of liver | 0.000271442 | 1 | 0 | BeFree |
Ewings sarcoma | 0.000271442 | 1 | 0 | BeFree |
Spinocerebellar Ataxia Type 7 | 0.000271442 | 1 | 0 | BeFree |
Glioblastoma Multiforme | 0.000271442 | 1 | 0 | BeFree |
Steatohepatitis | 0.000271442 | 1 | 0 | BeFree |
Plaque, Amyloid | 0.000271442 | 1 | 0 | BeFree |
aggressive cancer | 0.000271442 | 1 | 0 | BeFree |
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