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This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group. Alternatively spliced transcript variants have been found. [provided by RefSeq, Apr 2011]
[中文简述(自动翻译):]  这个基因编码催化的维生素B(12)的转化的最后一步到腺苷钴胺(AdoCbl),维生素含有B12辅酶为甲基丙二酰-CoA变位酶的蛋白质。在基因突变是链接到CBLB互补组维生素B12依赖甲基丙二酸尿症的原因。另外剪接转录变体已被发现。 [由RefSeq的,2011年4月提供]
MMAB基因(以及对应的蛋白质)的细胞分布位置:
MMAB基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Methylmalonic aciduria cblB type | 0.480542884 | 4 | 10 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
Age-related cataract | 0.12 | 1 | 1 | GWASCAT |
Mental Retardation | 0.002985861 | 11 | 0 | BeFree |
Diabetes Mellitus, Non-Insulin-Dependent | 0.002638474 | 2 | 0 | BeFree_GAD |
Seckel syndrome | 0.002442977 | 9 | 0 | BeFree |
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED | 0.002442977 | 9 | 0 | BeFree |
Hyperlipidemia | 0.002367032 | 1 | 0 | GAD |
Hypertriglyceridemia | 0.002367032 | 1 | 0 | GAD |
Dyslipidemias | 0.002367032 | 1 | 0 | GAD |
Hypertriglyceridemia result | 0.002367032 | 1 | 0 | GAD |
alpha-Thalassemia | 0.002171535 | 8 | 0 | BeFree |
alpha^+^ Thalassemia | 0.002171535 | 8 | 0 | BeFree |
Fanconi Anemia | 0.001357209 | 5 | 0 | BeFree |
Methylmalonic acidemia | 0.001357209 | 5 | 0 | BeFree |
Leukemogenesis | 0.001357209 | 5 | 0 | BeFree |
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | 0.001357209 | 5 | 0 | BeFree |
Diabetes Mellitus, Insulin-Dependent | 0.001085767 | 4 | 0 | BeFree |
Multiple Sclerosis | 0.001085767 | 4 | 11 | BeFree |
Mental Retardation, X-Linked | 0.001085767 | 4 | 0 | BeFree |
Malignant neoplasm of breast | 0.000814326 | 3 | 0 | BeFree |
HIV Infections | 0.000814326 | 3 | 0 | BeFree |
Ovarian Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Severe mental retardation (I.Q. 20-34) | 0.000814326 | 3 | 0 | BeFree |
Breast Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Malignant neoplasm of ovary | 0.000814326 | 3 | 0 | BeFree |
Ataxia Telangiectasia | 0.000542884 | 2 | 0 | BeFree |
Autoimmune Diseases | 0.000542884 | 2 | 11 | BeFree |
Congenital chromosomal disease | 0.000542884 | 2 | 0 | BeFree |
IGA Glomerulonephritis | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of stomach | 0.000542884 | 2 | 0 | BeFree |
melanoma | 0.000542884 | 2 | 0 | BeFree |
Mastitis-metritis-agalactia syndrome | 0.000542884 | 2 | 0 | BeFree |
Nijmegen Breakage Syndrome | 0.000542884 | 2 | 0 | BeFree |
Alpha thalassemia-mental retardation syndrome | 0.000542884 | 2 | 0 | BeFree |
Carcinogenesis | 0.000542884 | 2 | 0 | BeFree |
Arteriosclerosis | 0.000271442 | 1 | 0 | BeFree |
Atherosclerosis | 0.000271442 | 1 | 0 | BeFree |
Bloom Syndrome | 0.000271442 | 1 | 0 | BeFree |
Brain Diseases | 0.000271442 | 1 | 0 | BeFree |
Squamous cell carcinoma | 0.000271442 | 1 | 0 | BeFree |
Carcinoma, Transitional Cell | 0.000271442 | 1 | 0 | BeFree |
Malignant tumor of cervix | 0.000271442 | 1 | 0 | BeFree |
Depressive disorder | 0.000271442 | 1 | 0 | BeFree |
Diabetes | 0.000271442 | 1 | 0 | BeFree |
Diabetes Mellitus | 0.000271442 | 1 | 0 | BeFree |
Experimental Autoimmune Encephalomyelitis | 0.000271442 | 1 | 0 | BeFree |
Glioblastoma | 0.000271442 | 1 | 0 | BeFree |
leukemia | 0.000271442 | 1 | 0 | BeFree |
Chronic Lymphocytic Leukemia | 0.000271442 | 1 | 0 | BeFree |
Acute lymphocytic leukemia | 0.000271442 | 1 | 0 | BeFree |
Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Microphthalmos | 0.000271442 | 1 | 0 | BeFree |
Mitral Valve Stenosis | 0.000271442 | 1 | 0 | BeFree |
Myocardial Infarction | 0.000271442 | 1 | 0 | BeFree |
Neoplasm Metastasis | 0.000271442 | 1 | 0 | BeFree |
Osteosarcoma | 0.000271442 | 1 | 0 | BeFree |
Pancreatic Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Sarcoidosis | 0.000271442 | 1 | 0 | BeFree |
Kaposi Sarcoma | 0.000271442 | 1 | 0 | BeFree |
Tooth Crowding | 0.000271442 | 1 | 0 | BeFree |
Werner Syndrome | 0.000271442 | 1 | 0 | BeFree |
T-Cell Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Epstein-Barr Virus Infections | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of lung | 0.000271442 | 1 | 0 | BeFree |
Turcot syndrome (disorder) | 0.000271442 | 1 | 0 | BeFree |
Dyskeratosis Congenita | 0.000271442 | 1 | 0 | BeFree |
Xeroderma pigmentosum, group A | 0.000271442 | 1 | 0 | BeFree |
Cervix carcinoma | 0.000271442 | 1 | 0 | BeFree |
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse | 0.000271442 | 1 | 0 | BeFree |
Adenosylcobalamin synthesis defect | 0.000271442 | 1 | 0 | BeFree |
Osteosarcoma of bone | 0.000271442 | 1 | 0 | BeFree |
Epithelial ovarian cancer | 0.000271442 | 1 | 0 | BeFree |
Stomach Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Juberg-Marsidi syndrome | 0.000271442 | 1 | 0 | BeFree |
Pancreatic Ductal Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Pyothorax-Associated Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Coronary Artery Disease | 0.000271442 | 1 | 0 | BeFree |
Precursor Cell Lymphoblastic Leukemia Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Urothelial Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Triple Negative Breast Neoplasms | 0.000271442 | 1 | 0 | BeFree |
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