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Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma-secretase activity or themselves are protease enzymes. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene, the full-length nature of only some have been determined. [provided by RefSeq, Aug 2008]
[中文简述(自动翻译):]  阿尔茨海默氏病(AD)患者在早老蛋白的疾病进位的突变的遗传形式(PSEN1; PSEN2)或淀粉样前体蛋白(APP)。这些疾病相关的突变导致生产淀粉样蛋白-β(公元大脑中淀粉样蛋白沉积的主要成分)的较长形式的增加。早老被假定通过其对γ-分泌酶的作用来调节APP处理,酶劈开APP。此外,可以认为,在早老参与Notch受体的裂解,使得它们可以直接调节γ-分泌酶活性或本身是蛋白酶。编码不同同种型的几个可变剪接转录物变体已被发现此基因,只有部分全长性质已经确定。 [由RefSeq的,2008年8月提供]
PSEN1基因(以及对应的蛋白质)的细胞分布位置:
PSEN1基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Alzheimer's Disease | 0.388772838 | 197 | 12 | BeFree_CTD_human_GAD_LHGDN_MGD |
| Frontotemporal dementia | 0.369077134 | 17 | 6 | BeFree_CLINVAR_CTD_human_GAD_UNIPROT |
| Cardiomyopathy, Dilated, 1u | 0.36 | 1 | 1 | CLINVAR_CTD_human_UNIPROT |
| Alzheimer disease, familial, type 3 | 0.320271442 | 30 | 31 | BeFree_CLINVAR_MGD_UNIPROT |
| Pick Disease of the Brain | 0.247610304 | 19 | 7 | BeFree_CLINVAR_CTD_human_LHGDN |
| Cardiomyopathy, Dilated | 0.240814326 | 3 | 1 | BeFree_CLINVAR_CTD_human |
| Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia | 0.24 | 0 | 2 | CLINVAR_CTD_human |
| Neurodegenerative Disorders | 0.124810009 | 11 | 1 | BeFree_CTD_human_GAD |
| Amyloidosis | 0.121085767 | 5 | 1 | BeFree_CTD_human |
| Heart failure | 0.120271442 | 1 | 1 | BeFree_CLINVAR |
| Asphyxia Neonatorum | 0.12 | 1 | 0 | CTD_human |
| IGA Glomerulonephritis | 0.12 | 1 | 0 | CTD_human |
| Learning Disorders | 0.12 | 1 | 0 | CTD_human |
| Memory Disorders | 0.12 | 1 | 0 | CTD_human |
| Nerve Degeneration | 0.12 | 1 | 0 | CTD_human |
| Semantic Dementia | 0.12 | 0 | 0 | ORPHANET |
| Primary Progressive Nonfluent Aphasia | 0.12 | 0 | 0 | ORPHANET |
| Hidradenitis suppurativa, familial | 0.12 | 1 | 0 | CTD_human |
| Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques | 0.12 | 0 | 0 | CLINVAR |
| ALZHEIMER DISEASE 4 | 0.12 | 0 | 1 | CLINVAR |
| ACNE INVERSA, FAMILIAL, 3 | 0.12 | 0 | 0 | CLINVAR |
| Dementia | 0.046016599 | 51 | 8 | BeFree_GAD_LHGDN |
| Paraparesis, Spastic | 0.020960613 | 18 | 5 | BeFree_LHGDN |
| Familial Alzheimer Disease (FAD) | 0.015200745 | 56 | 7 | BeFree |
| Presenile dementia | 0.012486326 | 46 | 10 | BeFree |
| Alzheimer Disease, Early Onset | 0.00868614 | 32 | 10 | BeFree |
| Senile Plaques | 0.007600372 | 28 | 4 | BeFree |
| Down Syndrome | 0.006905599 | 9 | 0 | BeFree_GAD |
| Plaque, Amyloid | 0.005971721 | 22 | 2 | BeFree |
| Dysarthria | 0.005720142 | 3 | 0 | BeFree_LHGDN |
| Seizures | 0.005438769 | 11 | 3 | BeFree_LHGDN |
| Oppositional Defiant Disorder | 0.004734064 | 2 | 0 | GAD |
| Attention Deficit Disorder | 0.004734064 | 2 | 0 | GAD |
| Conduct Disorder | 0.004734064 | 2 | 0 | GAD |
| Neuroblastoma | 0.004071628 | 15 | 3 | BeFree |
| Central neuroblastoma | 0.004071628 | 15 | 3 | BeFree |
| Cerebral Amyloid Angiopathy | 0.003995683 | 6 | 0 | BeFree_GAD |
| Lewy Body Disease | 0.003995683 | 7 | 0 | BeFree_GAD |
| Myoclonus | 0.003810118 | 4 | 2 | BeFree_LHGDN |
| Parkinsonian Disorders | 0.003810118 | 4 | 4 | BeFree_LHGDN |
| Dementia, Vascular | 0.003452799 | 4 | 0 | BeFree_GAD |
| Ataxia | 0.002995792 | 2 | 0 | BeFree_LHGDN |
| Memory impairment | 0.002985861 | 11 | 2 | BeFree |
| Amyotrophic Lateral Sclerosis | 0.002909916 | 2 | 4 | BeFree_GAD |
| Mental Depression | 0.002909916 | 3 | 0 | BeFree_GAD |
| Anoxia | 0.00272435 | 1 | 0 | LHGDN |
| Deglutition Disorders | 0.00272435 | 1 | 0 | LHGDN |
| Muscle Spasticity | 0.00272435 | 1 | 0 | LHGDN |
| Impaired cognition | 0.002714419 | 10 | 2 | BeFree |
| Schizophrenia | 0.002638474 | 2 | 0 | BeFree_GAD |
| Neurofibrillary degeneration (morphologic abnormality) | 0.002442977 | 9 | 8 | BeFree |
| Narcolepsy | 0.002367032 | 1 | 0 | GAD |
| Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
| Age related macular degeneration | 0.002367032 | 1 | 0 | GAD |
| Alzheimer Disease, Late Onset | 0.001900093 | 7 | 0 | BeFree |
| Glioma | 0.001357209 | 5 | 0 | BeFree |
| Amyloid angiopathy | 0.001357209 | 5 | 0 | BeFree |
| Amnesia | 0.001085767 | 4 | 0 | BeFree |
| Malignant neoplasm of breast | 0.001085767 | 4 | 0 | BeFree |
| Breast Carcinoma | 0.001085767 | 4 | 0 | BeFree |
| Familial Dementia | 0.001085767 | 4 | 2 | BeFree |
| Frontotemporal Lobar Degeneration | 0.001085767 | 4 | 0 | BeFree |
| Memory Loss | 0.001085767 | 4 | 0 | BeFree |
| Depressive disorder | 0.000814326 | 3 | 0 | BeFree |
| Epilepsy | 0.000814326 | 3 | 1 | BeFree |
| Neurologic Symptoms | 0.000814326 | 3 | 1 | BeFree |
| Astrocytoma | 0.000542884 | 2 | 0 | BeFree |
| Cerebellar Ataxia | 0.000542884 | 2 | 0 | BeFree |
| Diabetes Mellitus, Non-Insulin-Dependent | 0.000542884 | 2 | 0 | BeFree |
| Adult Neuronal Ceroid Lipofuscinosis | 0.000542884 | 2 | 1 | BeFree |
| Muscle Rigidity | 0.000542884 | 2 | 0 | BeFree |
| Ovarian Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Pheochromocytoma | 0.000542884 | 2 | 0 | BeFree |
| Pituitary Diseases | 0.000542884 | 2 | 0 | BeFree |
| Spastic Paraplegia | 0.000542884 | 2 | 0 | BeFree |
| Seasonal Affective Disorder | 0.000542884 | 2 | 0 | BeFree |
| Extrapyramidal sign | 0.000542884 | 2 | 0 | BeFree |
| Cerebral atrophy | 0.000542884 | 2 | 0 | BeFree |
| Personality change | 0.000542884 | 2 | 1 | BeFree |
| Tauopathies | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of ovary | 0.000542884 | 2 | 0 | BeFree |
| Mild cognitive disorder | 0.000542884 | 2 | 1 | BeFree |
| Antley-Bixler Syndrome, Autosomal Dominant | 0.000542884 | 2 | 0 | BeFree |
| GRN-related frontotemporal dementia | 0.000542884 | 2 | 0 | BeFree |
| Congenital Abnormality | 0.000271442 | 1 | 0 | BeFree |
| Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
| Anxiety Disorders | 0.000271442 | 1 | 0 | BeFree |
| Aphasia | 0.000271442 | 1 | 0 | BeFree |
| Apraxias | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of urinary bladder | 0.000271442 | 1 | 0 | BeFree |
| Brain Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Renal Cell Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Squamous cell carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Cerebral Infarction | 0.000271442 | 1 | 0 | BeFree |
| Confusion | 0.000271442 | 1 | 0 | BeFree |
| Senile dementia | 0.000271442 | 1 | 0 | BeFree |
| Headache | 0.000271442 | 1 | 0 | BeFree |
| Congestive heart failure | 0.000271442 | 1 | 0 | BeFree |
| Hydrocephalus | 0.000271442 | 1 | 0 | BeFree |
| Ischemia | 0.000271442 | 1 | 0 | BeFree |
| Kidney Failure, Chronic | 0.000271442 | 1 | 0 | BeFree |
| Language Disorders | 0.000271442 | 1 | 1 | BeFree |
| Metabolic Diseases | 0.000271442 | 1 | 0 | BeFree |
| Mycoses | 0.000271442 | 1 | 0 | BeFree |
| Obesity | 0.000271442 | 1 | 1 | BeFree |
| Parkinson Disease | 0.000271442 | 1 | 0 | BeFree |
| Cerebrovascular accident | 0.000271442 | 1 | 0 | BeFree |
| Vascular Diseases | 0.000271442 | 1 | 0 | BeFree |
| Motor Neuron Disease | 0.000271442 | 1 | 0 | BeFree |
| Depressive Symptoms | 0.000271442 | 1 | 0 | BeFree |
| Psychiatric symptom | 0.000271442 | 1 | 1 | BeFree |
| Disorientation | 0.000271442 | 1 | 0 | BeFree |
| Retinal damage | 0.000271442 | 1 | 0 | BeFree |
| anxiety generalized | 0.000271442 | 1 | 0 | BeFree |
| Leukoencephalopathies | 0.000271442 | 1 | 0 | BeFree |
| Kluver-Bucy Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Cortical cataract | 0.000271442 | 1 | 0 | BeFree |
| Impaired glucose tolerance | 0.000271442 | 1 | 1 | BeFree |
| Primary Progressive Aphasia (disorder) | 0.000271442 | 1 | 1 | BeFree |
| Tumor necrosis | 0.000271442 | 1 | 0 | BeFree |
| Aphasia, Progressive | 0.000271442 | 1 | 0 | BeFree |
| Sporadic Cerebral Amyloid Angiopathy | 0.000271442 | 1 | 0 | BeFree |
| Maturity onset diabetes mellitus in young | 0.000271442 | 1 | 0 | BeFree |
| Avitaminosis | 0.000271442 | 1 | 0 | BeFree |
| Neurobehavioral Manifestations | 0.000271442 | 1 | 0 | BeFree |
| Frontal lobe syndrome | 0.000271442 | 1 | 0 | BeFree |
| Progressive Neoplastic Disease | 0.000271442 | 1 | 0 | BeFree |
| Carcinoma of bladder | 0.000271442 | 1 | 0 | BeFree |
| Inclusion Body Myopathy, Sporadic | 0.000271442 | 1 | 0 | BeFree |
| Cognitive deterioration | 0.000271442 | 1 | 0 | BeFree |
| Cardiomyopathies | 0.000271442 | 1 | 0 | BeFree |
| Ovarian adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
| Precursor B-cell lymphoblastic leukemia | 0.000271442 | 1 | 0 | BeFree |
| Liver regeneration disorder | 0.000271442 | 1 | 0 | BeFree |
| Vitamin Deficiency | 0.000271442 | 1 | 0 | BeFree |
| FRAGILE X TREMOR/ATAXIA SYNDROME | 0.000271442 | 1 | 0 | BeFree |
| AURAL ATRESIA, CONGENITAL | 0.000271442 | 1 | 0 | BeFree |
| Familial encephalopathy with neuroserpin inclusion bodies | 0.000271442 | 1 | 0 | BeFree |
| Dementia, familial British | 0.000271442 | 1 | 0 | BeFree |
| Liver carcinoma | 0.000271442 | 1 | 0 | BeFree |
| clinical depression | 0.000271442 | 1 | 2 | BeFree |
| Progressive cGVHD | 0.000271442 | 1 | 0 | BeFree |
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