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Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. Each NADP(+)-dependent isozyme is a homodimer. The protein encoded by this gene is the NADP(+)-dependent isocitrate dehydrogenase found in the cytoplasm and peroxisomes. It contains the PTS-1 peroxisomal targeting signal sequence. The presence of this enzyme in peroxisomes suggests roles in the regeneration of NADPH for intraperoxisomal reductions, such as the conversion of 2, 4-dienoyl-CoAs to 3-enoyl-CoAs, as well as in peroxisomal reactions that consume 2-oxoglutarate, namely the alpha-hydroxylation of phytanic acid. The cytoplasmic enzyme serves a significant role in cytoplasmic NADPH production. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2013]
[中文简述(自动翻译):]  异柠檬酸脱氢酶催化异柠檬酸的氧化脱羧到2-酮戊二酸。这些酶属于两个不同的亚类,其中一个利用NAD(+)用作电子受体和其它NADP(+)。五异柠檬酸脱氢酶已经报道:三位NAD(+) - 依赖的异柠檬酸脱氢酶,其定位于线粒体基质,和两个NADP(+) - 依赖的异柠檬酸脱氢酶,其中之一就是线粒体和其他主要胞质。每个NADP(+) - 依赖性同功酶是同型二聚体。蛋白质ENCOD由该基因编在NADP(+) - 依赖的异柠檬酸在细胞质和过氧化物酶体中发现的脱氢酶。它包含的PTS-1过氧化物酶体靶向信号序列。在过氧化物酶这种酶的存在下,在消耗2-酮戊二酸的过氧化物酶反应表明角色的NADPH为intraperoxisomal减少,如2的转换,4-二烯酰基辅酶A到3-烯酰基辅酶A中,再生以及,即植烷酸的α羟基化。细胞质酶供应细胞质NADPH生产显著的作用。已发现此基因编码相同蛋白质可变剪接转录物变体。 [由RefSeq的,2013年9月提供]
IDH1基因(以及对应的蛋白质)的细胞分布位置:
IDH1基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Enchondromatosis | 0.240814326 | 4 | 0 | BeFree_CTD_human_ORPHANET |
| Glioma | 0.221550393 | 298 | 5 | BeFree_CTD_human_GAD_LHGDN |
| oligodendroglioma | 0.138783028 | 37 | 3 | BeFree_CTD_human_GAD_LHGDN |
| Cholangiocarcinoma | 0.122171535 | 8 | 0 | BeFree_CTD_human |
| Maffucci Syndrome | 0.121085767 | 4 | 1 | BeFree_ORPHANET |
| Precursor Cell Lymphoblastic Leukemia Lymphoma | 0.121085767 | 5 | 2 | BeFree_CTD_human |
| Hemangioma | 0.120542884 | 2 | 3 | BeFree_CTD_human |
| gliosarcoma | 0.120542884 | 2 | 0 | BeFree_ORPHANET |
| Chondroma | 0.120542884 | 3 | 0 | BeFree_CTD_human |
| Liver carcinoma | 0.120542884 | 3 | 0 | BeFree_CTD_human |
| Giant Cell Glioblastoma | 0.12 | 0 | 0 | ORPHANET |
| METAPHYSEAL ENCHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA | 0.12 | 0 | 0 | ORPHANET |
| Glioblastoma | 0.052842746 | 133 | 4 | BeFree_GAD_LHGDN |
| Leukemia, Myelocytic, Acute | 0.051205501 | 86 | 3 | BeFree_GAD |
| Brain Neoplasms | 0.039924495 | 38 | 1 | BeFree_GAD |
| Astrocytoma | 0.027936107 | 60 | 2 | BeFree_GAD_LHGDN |
| Preleukemia | 0.010282454 | 7 | 0 | BeFree_GAD |
| MYELODYSPLASTIC SYNDROME | 0.010282454 | 7 | 0 | BeFree_GAD |
| Well Differentiated Oligodendroglioma | 0.008957582 | 33 | 3 | BeFree |
| Anaplastic astrocytoma | 0.006786047 | 25 | 1 | BeFree |
| Anaplastic Oligodendroglioma | 0.006786047 | 25 | 3 | BeFree |
| Carcinogenesis | 0.006786047 | 25 | 3 | BeFree |
| Blast Phase | 0.00554839 | 3 | 0 | BeFree_GAD |
| Secondary Glioblastoma | 0.005428837 | 20 | 1 | BeFree |
| Myeloproliferative disease | 0.005276948 | 4 | 0 | BeFree_GAD |
| Hematological Disease | 0.005005506 | 2 | 0 | BeFree_GAD |
| Malignant Glioma | 0.004614512 | 17 | 2 | BeFree |
| leukemia | 0.00434307 | 16 | 0 | BeFree |
| Primary Myelofibrosis | 0.003724241 | 5 | 3 | BeFree_GAD |
| melanoma | 0.003724241 | 5 | 0 | BeFree_GAD |
| Polycythemia Vera | 0.003452799 | 4 | 3 | BeFree_GAD |
| Thrombocythemia, Essential | 0.003181358 | 3 | 2 | BeFree_GAD |
| Low grade glioma | 0.002985861 | 11 | 1 | BeFree |
| HIV Infections | 0.002909916 | 2 | 0 | BeFree_GAD |
| Neoplasm Metastasis | 0.002909916 | 2 | 0 | BeFree_GAD |
| Chondrosarcoma | 0.002714419 | 10 | 0 | BeFree |
| Lymphoma, Non-Hodgkin | 0.002638474 | 2 | 1 | BeFree_GAD |
| Supratentorial Neoplasms | 0.002638474 | 2 | 0 | BeFree_GAD |
| Thyroid Neoplasm | 0.002638474 | 1 | 0 | BeFree_GAD |
| Neuroectodermal Tumor, Primitive | 0.002638474 | 2 | 0 | BeFree_GAD |
| Glioblastoma Multiforme | 0.002442977 | 9 | 1 | BeFree |
| Carcinoma, Papillary | 0.002367032 | 1 | 0 | GAD |
| Chromosome Aberrations | 0.002367032 | 1 | 0 | GAD |
| Leukemia, Myelomonocytic, Chronic | 0.002367032 | 1 | 0 | GAD |
| Lung Neoplasms | 0.002367032 | 1 | 0 | GAD |
| Monosomy | 0.002367032 | 1 | 0 | GAD |
| Nervous System Neoplasms | 0.002367032 | 1 | 0 | GAD |
| Pancreatic Neoplasm | 0.002367032 | 1 | 0 | GAD |
| Skin Neoplasms | 0.002367032 | 1 | 0 | GAD |
| Medullary carcinoma | 0.002367032 | 1 | 0 | GAD |
| Oxyphilic Adenoma | 0.002367032 | 1 | 0 | GAD |
| Diffuse Astrocytoma | 0.002171535 | 8 | 0 | BeFree |
| Pilocytic Astrocytoma | 0.002171535 | 8 | 2 | BeFree |
| Primary Glioblastoma | 0.002171535 | 8 | 0 | BeFree |
| Seizures | 0.001900093 | 7 | 1 | BeFree |
| Hematologic Neoplasms | 0.001900093 | 7 | 0 | BeFree |
| Intrahepatic Cholangiocarcinoma | 0.001628651 | 6 | 0 | BeFree |
| Adult Acute Myeloblastic Leukemia | 0.001357209 | 5 | 1 | BeFree |
| Solid tumour | 0.001357209 | 5 | 0 | BeFree |
| Thyroid carcinoma | 0.001357209 | 5 | 0 | BeFree |
| Cytogenetically normal acute myeloid leukemia | 0.001357209 | 5 | 1 | BeFree |
| Acute lymphocytic leukemia | 0.001085767 | 4 | 2 | BeFree |
| Myeloid Leukemia | 0.001085767 | 4 | 0 | BeFree |
| Malignant neoplasm of brain | 0.001085767 | 4 | 1 | BeFree |
| Mixed Oligodendroglioma-Astrocytoma | 0.001085767 | 4 | 1 | BeFree |
| Gliomatosis cerebri | 0.001085767 | 4 | 1 | BeFree |
| Leukemogenesis | 0.001085767 | 4 | 0 | BeFree |
| Brain Tumor, Primary | 0.001085767 | 4 | 0 | BeFree |
| Malignant neoplasm of thyroid | 0.000814326 | 3 | 0 | BeFree |
| Colorectal Carcinoma | 0.000814326 | 3 | 0 | BeFree |
| Lymphoma | 0.000814326 | 3 | 0 | BeFree |
| Central Nervous System Neoplasms | 0.000814326 | 3 | 0 | BeFree |
| Tumor Progression | 0.000814326 | 3 | 0 | BeFree |
| pediatric acute myeloblastic leukemia | 0.000814326 | 3 | 0 | BeFree |
| Neoplasm, Residual | 0.000814326 | 3 | 0 | BeFree |
| Anaplastic Oligoastrocytoma | 0.000814326 | 3 | 1 | BeFree |
| Dedifferentiated chondrosarcoma | 0.000814326 | 3 | 0 | BeFree |
| Astrocytoma, low grade | 0.000814326 | 3 | 0 | BeFree |
| Oligodendroglial Neoplasm | 0.000814326 | 3 | 0 | BeFree |
| Conventional Chondrosarcoma | 0.000814326 | 3 | 0 | BeFree |
| Colorectal Cancer | 0.000814326 | 3 | 0 | BeFree |
| Enchondroma | 0.000814326 | 3 | 0 | BeFree |
| Adenocarcinoma | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of breast | 0.000542884 | 2 | 1 | BeFree |
| Non-Small Cell Lung Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Ependymoma | 0.000542884 | 2 | 1 | BeFree |
| Angioimmunoblastic Lymphadenopathy | 0.000542884 | 2 | 0 | BeFree |
| Myeloid Leukemia, Chronic | 0.000542884 | 2 | 2 | BeFree |
| Acute Promyelocytic Leukemia | 0.000542884 | 2 | 0 | BeFree |
| Acute Myeloid Leukemia, M1 | 0.000542884 | 2 | 0 | BeFree |
| Osteosarcoma | 0.000542884 | 2 | 0 | BeFree |
| Pheochromocytoma | 0.000542884 | 2 | 0 | BeFree |
| Acute leukemia | 0.000542884 | 2 | 0 | BeFree |
| Follicular thyroid carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Ganglioglioma | 0.000542884 | 2 | 0 | BeFree |
| high-grade childhood cerebral astrocytoma | 0.000542884 | 2 | 1 | BeFree |
| Vascular Neoplasms | 0.000542884 | 2 | 1 | BeFree |
| Malignant neoplasm of prostate | 0.000542884 | 2 | 0 | BeFree |
| Chondrogenic Neoplasm | 0.000542884 | 2 | 0 | BeFree |
| Breast Carcinoma | 0.000542884 | 2 | 1 | BeFree |
| Biliary Tract Cancer | 0.000542884 | 2 | 0 | BeFree |
| Rash and Dermatitis Adverse Event Associated with Chemoradiation | 0.000542884 | 2 | 1 | BeFree |
| Non-Neoplastic Disorder | 0.000542884 | 2 | 0 | BeFree |
| Congenital Abnormality | 0.000271442 | 1 | 1 | BeFree |
| Aplastic Anemia | 0.000271442 | 1 | 0 | BeFree |
| Mental disorders | 0.000271442 | 1 | 0 | BeFree |
| Bone neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Malignant tumor of colon | 0.000271442 | 1 | 0 | BeFree |
| Congenital chromosomal disease | 0.000271442 | 1 | 0 | BeFree |
| Ulcerative Colitis | 0.000271442 | 1 | 0 | BeFree |
| Common Cold | 0.000271442 | 1 | 0 | BeFree |
| Craniopharyngioma | 0.000271442 | 1 | 0 | BeFree |
| Epilepsy | 0.000271442 | 1 | 0 | BeFree |
| Fibrosarcoma | 0.000271442 | 1 | 1 | BeFree |
| Giant Cell Tumors | 0.000271442 | 1 | 0 | BeFree |
| Hepatitis | 0.000271442 | 1 | 0 | BeFree |
| Hepatitis A | 0.000271442 | 1 | 0 | BeFree |
| Kidney Failure, Acute | 0.000271442 | 1 | 0 | BeFree |
| Vulvar Lichen Sclerosus | 0.000271442 | 1 | 0 | BeFree |
| Paroxysmal nocturnal hemoglobinuria | 0.000271442 | 1 | 0 | BeFree |
| Metabolic Diseases | 0.000271442 | 1 | 0 | BeFree |
| Paraganglioma | 0.000271442 | 1 | 0 | BeFree |
| Precancerous Conditions | 0.000271442 | 1 | 0 | BeFree |
| Soft Tissue Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Li-Fraumeni Syndrome | 0.000271442 | 1 | 1 | BeFree |
| Neoplasms, Neuroepithelial | 0.000271442 | 1 | 1 | BeFree |
| Lesion of brain | 0.000271442 | 1 | 0 | BeFree |
| Papillary thyroid carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Telangiectatic osteosarcoma | 0.000271442 | 1 | 0 | BeFree |
| mixed gliomas | 0.000271442 | 1 | 0 | BeFree |
| Acute respiratory failure | 0.000271442 | 1 | 0 | BeFree |
| Petit mal status | 0.000271442 | 1 | 0 | BeFree |
| Liver and Intrahepatic Biliary Tract Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Chondroblastic osteosarcoma | 0.000271442 | 1 | 0 | BeFree |
| secondary acute myeloid leukemia | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of liver | 0.000271442 | 1 | 0 | BeFree |
| Pilocytic astrocytoma of cerebellum | 0.000271442 | 1 | 0 | BeFree |
| Nijmegen Breakage Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Chromosome 8, trisomy | 0.000271442 | 1 | 0 | BeFree |
| Recurrent tumor | 0.000271442 | 1 | 0 | BeFree |
| Tumor Initiation | 0.000271442 | 1 | 0 | BeFree |
| Prostate carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Glioma of brainstem | 0.000271442 | 1 | 0 | BeFree |
| Progressive Neoplastic Disease | 0.000271442 | 1 | 0 | BeFree |
| Colon Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Stomach Carcinoma | 0.000271442 | 1 | 2 | BeFree |
| Germ Cell Cancer | 0.000271442 | 1 | 0 | BeFree |
| Chromosome 1, monosomy 1p | 0.000271442 | 1 | 0 | BeFree |
| Chromosome 8, monosomy 8p | 0.000271442 | 1 | 0 | BeFree |
| Chromosome 8, trisomy 8p | 0.000271442 | 1 | 0 | BeFree |
| Breast adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
| Intestinal adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
| Chronic myeloproliferative disorder | 0.000271442 | 1 | 0 | BeFree |
| Single tumor | 0.000271442 | 1 | 1 | BeFree |
| Spindle cell hemangioma | 0.000271442 | 1 | 0 | BeFree |
| Vascular lesions | 0.000271442 | 1 | 3 | BeFree |
| Xenograft Model | 0.000271442 | 1 | 0 | BeFree |
| Neoplasms, Intracranial | 0.000271442 | 1 | 0 | BeFree |
| Neurocytoma | 0.000271442 | 1 | 0 | BeFree |
| Grade I Astrocytoma | 0.000271442 | 1 | 0 | BeFree |
| D-2-hydroxyglutaric aciduria | 0.000271442 | 1 | 0 | BeFree |
| MULTICYSTIC RENAL DYSPLASIA, BILATERAL | 0.000271442 | 1 | 0 | BeFree |
| Combined D-2- and L-2-hydroxyglutaric aciduria | 0.000271442 | 1 | 0 | BeFree |
| Progressive cGVHD | 0.000271442 | 1 | 0 | BeFree |
| Radiation Damage | 0.000271442 | 1 | 0 | BeFree |
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