更多...
收起
The protein encoded by this gene acts as a homotetramer to catalyze the conversion of homocysteine to cystathionine, the first step in the transsulfuration pathway. The encoded protein is allosterically activated by adenosyl-methionine and uses pyridoxal phosphate as a cofactor. Defects in this gene can cause cystathionine beta-synthase deficiency (CBSD), which can lead to homocystinuria. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2010]
[中文简述(自动翻译):]  由该基因编码的蛋白质用作同源四聚体来催化高半胱氨酸转化为胱硫醚,在转硫途径中的第一个步骤。所编码的蛋白质是变构由腺苷甲硫氨酸活化,并使用磷酸吡哆醛作为辅因子。在这个基因的缺陷可能导致胱硫醚β-内合成酶缺乏症(CBSD),这可能导致高胱氨酸尿症。多重选择性剪接转录变异体也发现了这种基因。 [由RefSeq的,2010年5月提供]
CBS基因(以及对应的蛋白质)的细胞分布位置:
CBS基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Cystathionine beta-Synthase Deficiency Disease | 0.327524428 | 45 | 8 | BeFree_GAD_MGD_ORPHANET_UNIPROT |
| Hyperhomocysteinemia | 0.2294228 | 45 | 4 | BeFree_CTD_human_GAD_LHGDN_RGD |
| Homocystinuria | 0.155731976 | 80 | 3 | BeFree_CTD_human_GAD_LHGDN |
| Lymphoma, Non-Hodgkin | 0.12764398 | 4 | 0 | BeFree_CTD_human_GAD |
| Cardiovascular Diseases | 0.127262917 | 9 | 0 | BeFree_CTD_human_GAD_LHGDN |
| Malnutrition | 0.122638474 | 2 | 0 | BeFree_CTD_human_GAD |
| Diabetes Mellitus, Non-Insulin-Dependent | 0.122367032 | 2 | 0 | CTD_human_GAD |
| Hypertensive disease | 0.122367032 | 2 | 0 | CTD_human_GAD |
| HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | 0.12 | 0 | 22 | CLINVAR |
| Homocysteinemia | 0.08868614 | 32 | 4 | BeFree_MGD |
| Down Syndrome | 0.02424166 | 24 | 7 | BeFree_GAD_LHGDN |
| Coronary Artery Disease | 0.014092571 | 9 | 0 | BeFree_GAD_LHGDN |
| Colorectal Cancer | 0.012920927 | 8 | 2 | BeFree_GAD |
| Spina Bifida | 0.012106602 | 6 | 0 | BeFree_GAD |
| Alzheimer's Disease | 0.01036833 | 3 | 0 | BeFree_GAD_LHGDN |
| Congenital Heart Defects | 0.00973957 | 5 | 0 | BeFree_GAD |
| Myocardial Infarction | 0.00973957 | 5 | 0 | BeFree_GAD |
| Premature Birth | 0.009468128 | 4 | 1 | GAD |
| Coronary heart disease | 0.008458305 | 7 | 0 | BeFree_GAD |
| Mental Retardation | 0.007915422 | 5 | 0 | BeFree_GAD |
| Malignant neoplasm of breast | 0.007372538 | 4 | 0 | BeFree_GAD |
| Malignant neoplasm of lung | 0.007372538 | 3 | 0 | BeFree_GAD |
| Inflammation | 0.007101096 | 3 | 1 | GAD |
| Neural Tube Defects | 0.007101096 | 3 | 0 | GAD |
| Brain Infarction | 0.007101096 | 3 | 0 | GAD |
| Cerebrovascular accident | 0.006362715 | 7 | 0 | BeFree_GAD |
| Atherosclerosis | 0.005819831 | 6 | 0 | BeFree_GAD |
| Coronary Arteriosclerosis | 0.00554839 | 5 | 0 | BeFree_GAD |
| Lung Neoplasms | 0.005362824 | 3 | 0 | BeFree_GAD_LHGDN |
| Meningioma | 0.005362824 | 1 | 0 | BeFree_GAD_LHGDN |
| Malignant neoplasm of urinary bladder | 0.005005506 | 2 | 0 | BeFree_GAD |
| Brain Ischemia | 0.004734064 | 2 | 0 | GAD |
| Cerebral Palsy | 0.004734064 | 2 | 0 | GAD |
| Cleft Lip | 0.004734064 | 2 | 0 | GAD |
| Cleft Palate | 0.004734064 | 2 | 0 | GAD |
| Venous Thrombosis | 0.004734064 | 2 | 0 | GAD |
| Hyperhomocystinemia | 0.004734064 | 2 | 0 | GAD |
| Inborn Errors of Metabolism | 0.003810118 | 4 | 0 | BeFree_LHGDN |
| Acute Megakaryocytic Leukemias | 0.003267234 | 2 | 0 | BeFree_LHGDN |
| Colon Carcinoma | 0.003257302 | 12 | 0 | BeFree |
| Adrenoleukodystrophy | 0.002995792 | 1 | 0 | BeFree_LHGDN |
| Obesity | 0.002909916 | 2 | 5 | BeFree_GAD |
| Deep Vein Thrombosis | 0.002909916 | 2 | 0 | BeFree_GAD |
| Thrombophilia | 0.002909916 | 3 | 0 | BeFree_GAD |
| Demyelinating Diseases | 0.00272435 | 1 | 0 | LHGDN |
| Heart Diseases | 0.00272435 | 1 | 0 | LHGDN |
| Intracranial Aneurysm | 0.002638474 | 1 | 0 | BeFree_GAD |
| Connective Tissue Diseases | 0.002638474 | 2 | 0 | BeFree_GAD |
| Huntington Disease | 0.002638474 | 2 | 0 | BeFree_GAD |
| Liver Cirrhosis | 0.002638474 | 2 | 0 | BeFree_GAD |
| Schizophrenia | 0.002638474 | 1 | 0 | BeFree_GAD |
| Thrombosis of cerebral veins | 0.002638474 | 2 | 0 | BeFree_GAD |
| Congenital Abnormality | 0.002367032 | 1 | 0 | GAD |
| Adenocarcinoma | 0.002367032 | 1 | 0 | GAD |
| Brain Neoplasms | 0.002367032 | 1 | 0 | GAD |
| Non-Small Cell Lung Carcinoma | 0.002367032 | 1 | 0 | GAD |
| Cerebrovascular Disorders | 0.002367032 | 1 | 0 | GAD |
| Colorectal Neoplasms | 0.002367032 | 1 | 0 | GAD |
| Edema | 0.002367032 | 1 | 0 | GAD |
| Fetal Diseases | 0.002367032 | 1 | 0 | GAD |
| Heart Septal Defects | 0.002367032 | 1 | 0 | GAD |
| Chronic Obstructive Airway Disease | 0.002367032 | 1 | 0 | GAD |
| Lupus Erythematosus, Systemic | 0.002367032 | 1 | 0 | GAD |
| Lymphoma | 0.002367032 | 1 | 0 | GAD |
| Lymphoma, Follicular | 0.002367032 | 1 | 0 | GAD |
| Musculoskeletal Diseases | 0.002367032 | 1 | 0 | GAD |
| Parkinson Disease | 0.002367032 | 1 | 0 | GAD |
| Pregnancy Complications, Hematologic | 0.002367032 | 1 | 0 | GAD |
| Prostatic Neoplasms | 0.002367032 | 1 | 0 | GAD |
| Dermatologic disorders | 0.002367032 | 1 | 0 | GAD |
| Stomach Neoplasms | 0.002367032 | 1 | 0 | GAD |
| Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
| B-Cell Lymphomas | 0.002367032 | 1 | 0 | GAD |
| Diffuse Large B-Cell Lymphoma | 0.002367032 | 1 | 0 | GAD |
| T-Cell Lymphoma | 0.002367032 | 1 | 0 | GAD |
| Central Nervous System Neoplasms | 0.002367032 | 1 | 0 | GAD |
| Aortic Aneurysm, Abdominal | 0.002367032 | 1 | 0 | GAD |
| Coronary Stenosis | 0.002367032 | 1 | 0 | GAD |
| Age related macular degeneration | 0.002367032 | 1 | 0 | GAD |
| Restenosis | 0.002367032 | 1 | 0 | GAD |
| Vertebral Artery Dissection | 0.002367032 | 1 | 0 | GAD |
| Methotrexate poisoning | 0.002367032 | 1 | 0 | GAD |
| Activated Protein C Resistance | 0.002367032 | 1 | 0 | GAD |
| Hepatopulmonary Syndrome | 0.002367032 | 1 | 0 | GAD |
| Chronic progressive chorea | 0.002367032 | 1 | 0 | GAD |
| Carotid Artery, Internal, Dissection | 0.002367032 | 1 | 0 | GAD |
| Infection | 0.002367032 | 1 | 0 | GAD |
| Vascular Diseases | 0.002171535 | 8 | 0 | BeFree |
| Thromboembolism | 0.001900093 | 7 | 0 | BeFree |
| Arteriosclerosis | 0.001357209 | 5 | 0 | BeFree |
| Homocystinuria, Pyridoxine-Responsive | 0.001357209 | 5 | 1 | BeFree |
| Liver carcinoma | 0.001085767 | 4 | 0 | BeFree |
| Arterial Occlusive Diseases | 0.000814326 | 3 | 0 | BeFree |
| Malignant tumor of colon | 0.000814326 | 3 | 0 | BeFree |
| Colorectal Carcinoma | 0.000814326 | 3 | 2 | BeFree |
| Leukemia, Myelocytic, Acute | 0.000814326 | 3 | 0 | BeFree |
| Fatty Liver | 0.000542884 | 2 | 0 | BeFree |
| Folic Acid Deficiency | 0.000542884 | 2 | 0 | BeFree |
| Liver neoplasms | 0.000542884 | 2 | 0 | BeFree |
| Meningomyelocele | 0.000542884 | 2 | 0 | BeFree |
| Mycoses | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of prostate | 0.000542884 | 2 | 0 | BeFree |
| Prostate carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Endothelial dysfunction | 0.000542884 | 2 | 1 | BeFree |
| Ischemic stroke | 0.000542884 | 2 | 0 | BeFree |
| Steatohepatitis | 0.000542884 | 2 | 0 | BeFree |
| Ischemic Cerebrovascular Accident | 0.000542884 | 2 | 0 | BeFree |
| Aneurysm, Dissecting | 0.000271442 | 1 | 0 | BeFree |
| Oral candidiasis | 0.000271442 | 1 | 0 | BeFree |
| Cerebral Infarction | 0.000271442 | 1 | 0 | BeFree |
| Cognition Disorders | 0.000271442 | 1 | 0 | BeFree |
| Mental Depression | 0.000271442 | 1 | 0 | BeFree |
| Depressive disorder | 0.000271442 | 1 | 0 | BeFree |
| Dermatitis | 0.000271442 | 1 | 0 | BeFree |
| Diabetes | 0.000271442 | 1 | 0 | BeFree |
| Diabetes Mellitus | 0.000271442 | 1 | 0 | BeFree |
| Immunologic Deficiency Syndromes | 0.000271442 | 1 | 0 | BeFree |
| Inflammatory Bowel Diseases | 0.000271442 | 1 | 0 | BeFree |
| leukemia | 0.000271442 | 1 | 0 | BeFree |
| Leukemia, Lymphocytic, Acute, L1 | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of stomach | 0.000271442 | 1 | 0 | BeFree |
| Multiple Myeloma | 0.000271442 | 1 | 0 | BeFree |
| Ovarian Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Adenomatous Polyposis Coli | 0.000271442 | 1 | 0 | BeFree |
| Preexcitation Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Pyruvate Carboxylase Deficiency Disease | 0.000271442 | 1 | 0 | BeFree |
| Renal Artery Stenosis | 0.000271442 | 1 | 0 | BeFree |
| Kidney Failure | 0.000271442 | 1 | 0 | BeFree |
| Septicemia | 0.000271442 | 1 | 0 | BeFree |
| Sinus Thrombosis, Intracranial | 0.000271442 | 1 | 0 | BeFree |
| Subarachnoid Hemorrhage | 0.000271442 | 1 | 0 | BeFree |
| Lymphoma, Large-Cell, Follicular | 0.000271442 | 1 | 0 | BeFree |
| Russell-Silver syndrome | 0.000271442 | 1 | 0 | BeFree |
| Sepsis | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of colon stage IV | 0.000271442 | 1 | 0 | BeFree |
| Cancer of Head and Neck | 0.000271442 | 1 | 0 | BeFree |
| Impaired cognition | 0.000271442 | 1 | 0 | BeFree |
| Neurodegenerative Disorders | 0.000271442 | 1 | 0 | BeFree |
| Factor V Leiden mutation | 0.000271442 | 1 | 0 | BeFree |
| Leukemogenesis | 0.000271442 | 1 | 0 | BeFree |
| Epithelial ovarian cancer | 0.000271442 | 1 | 0 | BeFree |
| Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of gastrointestinal tract | 0.000271442 | 1 | 0 | BeFree |
| Stomach Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Carcinoma of bladder | 0.000271442 | 1 | 0 | BeFree |
| Arteriopathic disease | 0.000271442 | 1 | 0 | BeFree |
| Cerebral Ischemia | 0.000271442 | 1 | 0 | BeFree |
| ovarian neoplasm | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of ovary | 0.000271442 | 1 | 0 | BeFree |
| Renal Insufficiency | 0.000271442 | 1 | 0 | BeFree |
| Meningioma, benign, no ICD-O subtype | 0.000271442 | 1 | 0 | BeFree |
| Intellectual Disability | 0.000271442 | 1 | 0 | BeFree |
忘记密码? 点击找回密码.
扫一扫右方二维码,关注微信订阅号,实时查看信息,关注医学生物学动态。