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Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA polymerase. The encoded protein contains a polyglutamine tract near its N-terminus that may be polymorphic. Defects in this gene are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS), and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  线粒体DNA聚合酶异,包括附件亚基的同源二聚体加上催化亚基。由该基因编码的蛋白质是线粒体DNA聚合酶的催化亚基。所编码的蛋白质包含邻近其N-末端多聚谷氨酰胺道可能是多态的。这种基因缺陷与线粒体DNA缺失进步眼外肌麻痹1(PEOA1),感觉神经病变共济失调和构音障碍ophthalmoparesis(许三多)的原因,阿尔佩斯-Huttenlocher综合征(AHS)和线粒体neurogastrointestinal脑病综合征(MNGIE)。已发现了该基因编码的蛋白质相同的两个转录变异体。 [由RefSeq的,2008年7月提供]
POLG基因(以及对应的蛋白质)的细胞分布位置:
POLG基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Alpers Syndrome (disorder) | 0.48868614 | 40 | 8 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 0.480542884 | 12 | 9 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | 0.480542884 | 13 | 13 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 | 0.36 | 6 | 6 | CLINVAR_CTD_human_UNIPROT |
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) | 0.36 | 3 | 7 | CLINVAR_CTD_human_UNIPROT |
Mitochondrial Diseases | 0.255763492 | 40 | 6 | BeFree_CLINVAR_CTD_human_LHGDN |
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME | 0.24 | 0 | 2 | CLINVAR_CTD_human |
Chronic progressive external ophthalmoplegia | 0.158406295 | 33 | 1 | BeFree_CTD_human_GAD_LHGDN |
Parkinsonian Disorders | 0.14041773 | 18 | 2 | BeFree_CTD_human_LHGDN |
Diffuse Cerebral Sclerosis of Schilder | 0.139507596 | 29 | 3 | BeFree_CTD_human_GAD_LHGDN |
Male infertility | 0.136459603 | 11 | 0 | BeFree_CTD_human_GAD_LHGDN |
Seizures | 0.126448592 | 7 | 0 | BeFree_CTD_human_GAD_LHGDN |
Epilepsy | 0.122985861 | 12 | 2 | BeFree_CTD_human |
Menopause present (finding) | 0.122367032 | 1 | 1 | GAD_GWASCAT |
Peripheral Neuropathy | 0.120542884 | 3 | 2 | BeFree_CTD_human |
SPINOCEREBELLAR ATAXIA WITH EPILEPSY | 0.120542884 | 2 | 3 | BeFree_CLINVAR |
Charcot-Marie-Tooth Disease | 0.120271442 | 1 | 2 | BeFree_CLINVAR |
Leigh Disease | 0.120271442 | 3 | 0 | BeFree_UNIPROT |
Drug-Induced Liver Injury | 0.12 | 2 | 0 | CTD_human |
Status Epilepticus | 0.081628651 | 7 | 1 | BeFree_RGD |
Diabetes Mellitus, Experimental | 0.08 | 1 | 0 | RGD |
MYELODYSPLASTIC SYNDROME | 0.08 | 0 | 0 | MGD |
Parkinson Disease | 0.010911214 | 5 | 0 | BeFree_GAD_LHGDN |
Ovarian Failure, Premature | 0.007372538 | 4 | 0 | BeFree_GAD |
Ataxia | 0.006524536 | 15 | 2 | BeFree_LHGDN |
Neurodegenerative Disorders | 0.003538676 | 3 | 0 | BeFree_LHGDN |
Acidosis, Lactic | 0.003267234 | 3 | 0 | BeFree_LHGDN |
Tremor | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Polyneuropathy | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Liver Failure, Acute | 0.002995792 | 2 | 0 | BeFree_LHGDN |
MERRF Syndrome | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Mood Disorders | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Ataxia Neuropathy Spectrum | 0.002985861 | 11 | 2 | BeFree |
Cardiomyopathy, Dilated | 0.00272435 | 1 | 0 | LHGDN |
Failure to Thrive | 0.00272435 | 1 | 0 | LHGDN |
Sensorineural Hearing Loss (disorder) | 0.00272435 | 1 | 0 | LHGDN |
Neoplasms, Germ Cell and Embryonal | 0.00272435 | 1 | 0 | LHGDN |
Blindness, Cortical | 0.00272435 | 1 | 0 | LHGDN |
HIV Infections | 0.002638474 | 2 | 0 | BeFree_GAD |
Multiple Sclerosis | 0.002638474 | 2 | 0 | BeFree_GAD |
Malignant neoplasm of urinary bladder | 0.002367032 | 1 | 0 | GAD |
Diabetes Mellitus, Insulin-Dependent | 0.002367032 | 1 | 0 | GAD |
Friedreich Ataxia | 0.002367032 | 1 | 0 | GAD |
Headache | 0.002367032 | 1 | 0 | GAD |
Hypertensive disease | 0.002367032 | 1 | 0 | GAD |
Lipodystrophy | 0.002367032 | 1 | 0 | GAD |
Obesity | 0.002367032 | 1 | 0 | GAD |
Polycystic Ovary Syndrome | 0.002367032 | 1 | 0 | GAD |
Delayed Puberty | 0.002367032 | 1 | 0 | GAD |
Precocious Puberty | 0.002367032 | 1 | 0 | GAD |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
Thrombophilia | 0.002367032 | 1 | 0 | GAD |
Chromosomal Instability | 0.002367032 | 1 | 0 | GAD |
46, XX Disorders of Sex Development | 0.002367032 | 1 | 0 | GAD |
Liver Failure | 0.001357209 | 5 | 4 | BeFree |
Mitochondrial Myopathies | 0.001357209 | 5 | 0 | BeFree |
Ataxic | 0.001357209 | 5 | 0 | BeFree |
Depletion of mitochondrial DNA | 0.001357209 | 5 | 0 | BeFree |
nervous system disorder | 0.001085767 | 4 | 0 | BeFree |
Ophthalmoplegia | 0.001085767 | 4 | 0 | BeFree |
Cerebrovascular accident | 0.001085767 | 4 | 0 | BeFree |
Ophthalmoparesis | 0.001085767 | 4 | 1 | BeFree |
Malignant neoplasm of breast | 0.000814326 | 3 | 0 | BeFree |
Optic Atrophy | 0.000814326 | 3 | 0 | BeFree |
Encephalopathies | 0.000814326 | 3 | 0 | BeFree |
MELAS Syndrome | 0.000814326 | 3 | 0 | BeFree |
Breast Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Drug Resistant Epilepsy | 0.000814326 | 3 | 0 | BeFree |
Kearns-Sayre syndrome | 0.000542884 | 2 | 0 | BeFree |
Myopathy | 0.000542884 | 2 | 0 | BeFree |
Oligospermia | 0.000542884 | 2 | 0 | BeFree |
Epilepsia Partialis Continua | 0.000542884 | 2 | 0 | BeFree |
Sensory neuropathy | 0.000542884 | 2 | 0 | BeFree |
External Ophthalmoplegia | 0.000542884 | 2 | 0 | BeFree |
Peripheral motor neuropathy | 0.000542884 | 2 | 0 | BeFree |
Leukoencephalopathies | 0.000542884 | 2 | 1 | BeFree |
Neuropathy | 0.000542884 | 2 | 0 | BeFree |
Infantile Severe Myoclonic Epilepsy | 0.000542884 | 2 | 0 | BeFree |
Adult Acute Lymphocytic Leukemia | 0.000542884 | 2 | 0 | BeFree |
Cardiomyopathies | 0.000542884 | 2 | 0 | BeFree |
COENZYME Q10 DEFICIENCY | 0.000542884 | 2 | 0 | BeFree |
Alzheimer's Disease | 0.000271442 | 1 | 0 | BeFree |
Amenorrhea | 0.000271442 | 1 | 0 | BeFree |
Autistic Disorder | 0.000271442 | 1 | 0 | BeFree |
Bipolar Disorder | 0.000271442 | 1 | 0 | BeFree |
Blepharoptosis | 0.000271442 | 1 | 2 | BeFree |
Encephalitis | 0.000271442 | 1 | 0 | BeFree |
Epilepsies, Myoclonic | 0.000271442 | 1 | 0 | BeFree |
Hepatic Encephalopathy | 0.000271442 | 1 | 1 | BeFree |
Keratoconus | 0.000271442 | 1 | 0 | BeFree |
Myoclonus | 0.000271442 | 1 | 0 | BeFree |
Ptosis | 0.000271442 | 1 | 2 | BeFree |
Shy-Drager Syndrome | 0.000271442 | 1 | 0 | BeFree |
Premature aging syndrome | 0.000271442 | 1 | 0 | BeFree |
Inclusion Body Myositis (disorder) | 0.000271442 | 1 | 0 | BeFree |
Ataxia, Sensory | 0.000271442 | 1 | 0 | BeFree |
Axonal neuropathy | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of prostate | 0.000271442 | 1 | 0 | BeFree |
Multiple System Atrophy | 0.000271442 | 1 | 0 | BeFree |
INFERTILITY/SUBFERTILITY MALE | 0.000271442 | 1 | 0 | BeFree |
Epileptic encephalopathy | 0.000271442 | 1 | 0 | BeFree |
Prostate carcinoma | 0.000271442 | 1 | 0 | BeFree |
Epithelial ovarian cancer | 0.000271442 | 1 | 0 | BeFree |
Subfertility | 0.000271442 | 1 | 0 | BeFree |
Focal Dystonia | 0.000271442 | 1 | 0 | BeFree |
Ovarian adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Liver regeneration disorder | 0.000271442 | 1 | 0 | BeFree |
Mammary Neoplasms | 0.000271442 | 1 | 0 | BeFree |
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 | 0.000271442 | 1 | 0 | BeFree |
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