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This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonic aciduria. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  该基因编码线粒体酶甲基丙二酰辅酶A变位酶。在人类中,该基因的产物是一个维生素B12依赖性酶,其催化甲基丙二酰-CoA的异构化琥珀酰-CoA,而在其他物种这种酶可以具有不同的功能。在这个基因的突变可导致各种类型的甲基丙二酸尿症的。 [由RefSeq的,2008年7月提供]
MUT基因(以及对应的蛋白质)的细胞分布位置:
MUT基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency | 0.56 | 6 | 7 | CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT |
| Methylmalonic acidemia | 0.132486326 | 47 | 2 | BeFree_CTD_human |
| Inborn Errors of Metabolism | 0.120271442 | 2 | 0 | BeFree_CTD_human |
| Obesity | 0.12 | 1 | 0 | CTD_human |
| Methylmalonic Aciduria, mut(0) Type | 0.12 | 0 | 9 | CLINVAR |
| Methylmalonic Aciduria, mut(-) Type | 0.12 | 0 | 2 | CLINVAR |
| Mastitis-metritis-agalactia syndrome | 0.005971721 | 22 | 1 | BeFree |
| Hyperammonemia | 0.00272435 | 1 | 0 | LHGDN |
| Amino Acid Metabolism, Inborn Errors | 0.002367032 | 1 | 0 | GAD |
| Malignant neoplasm of prostate | 0.002367032 | 1 | 0 | GAD |
| Metabolic Diseases | 0.000814326 | 3 | 0 | BeFree |
| Cervix carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of breast | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of thyroid | 0.000271442 | 1 | 0 | BeFree |
| Non-Small Cell Lung Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Malignant tumor of cervix | 0.000271442 | 1 | 0 | BeFree |
| Colorectal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Colorectal Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| HIV Infections | 0.000271442 | 1 | 0 | BeFree |
| Meningioma | 0.000271442 | 1 | 0 | BeFree |
| Neoplasm Metastasis | 0.000271442 | 1 | 0 | BeFree |
| Pancreatic Diseases | 0.000271442 | 1 | 0 | BeFree |
| Retinoblastoma | 0.000271442 | 1 | 0 | BeFree |
| Systemic Scleroderma | 0.000271442 | 1 | 0 | BeFree |
| Cervical Intraepithelial Neoplasia | 0.000271442 | 1 | 0 | BeFree |
| Antisocial behavior | 0.000271442 | 1 | 0 | BeFree |
| Anaplastic thyroid carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Vulval intraepithelial neoplasia | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of pancreas | 0.000271442 | 1 | 0 | BeFree |
| Thyroid carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Carcinogenesis | 0.000271442 | 1 | 0 | BeFree |
| Cancer of Urinary Tract | 0.000271442 | 1 | 0 | BeFree |
| Cardiomyopathies | 0.000271442 | 1 | 0 | BeFree |
| Ischemic stroke | 0.000271442 | 1 | 0 | BeFree |
| Mitochondrial Respiratory Chain Deficiencies | 0.000271442 | 1 | 0 | BeFree |
| Disorder of organic acid metabolism | 0.000271442 | 1 | 0 | BeFree |
| Colorectal Cancer | 0.000271442 | 1 | 0 | BeFree |
| Ischemic Cerebrovascular Accident | 0.000271442 | 1 | 0 | BeFree |
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