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This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The protein encoded by this gene localizes to the inner mitochondrial membrane where it hydroxylates 25-hydroxyvitamin D3 at the 1alpha position. This reaction synthesizes 1alpha,25-dihydroxyvitamin D3, the active form of vitamin D3, which binds to the vitamin D receptor and regulates calcium metabolism. Thus this enzyme regulates the level of biologically active vitamin D and plays an important role in calcium homeostasis. Mutations in this gene can result in vitamin D-dependent rickets type I. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  该基因编码的酶的细胞色素P450超家族的成员。细胞色素P450蛋白是能催化涉及药物代谢和胆固醇,类固醇和其他脂类的合成许多反应单加氧酶。由该基因编码的蛋白质定位于线粒体内膜的地方羟化25-羟基维生素D3在1α的位置。这个反应来合成1α的,25二羟基维生素D3,维生素D3,其结合到维生素D受体和调节钙的代谢活性形式。因此,这个酶调节生物活性的维生素D的水平和起着钙稳态中起重要作用。在这个基因的突变可导致维生素D依赖性佝偻病I型[由RefSeq的,2008年7月提供]
CYP27B1基因(以及对应的蛋白质)的细胞分布位置:
CYP27B1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Vitamin D-dependent rickets, type 1 | 0.445428837 | 22 | 14 | BeFree_CLINVAR_CTD_human_MGD_UNIPROT |
Multiple Sclerosis | 0.132258492 | 21 | 1 | BeFree_GAD_GWASCAT |
Rickets | 0.125428837 | 21 | 0 | BeFree_CTD_human |
Hypercalcemia | 0.121085767 | 5 | 0 | BeFree_CTD_human |
Polymyositis | 0.12 | 1 | 0 | CTD_human |
Acidosis | 0.08 | 1 | 0 | RGD |
Diabetes Mellitus, Experimental | 0.08 | 1 | 0 | RGD |
Hepatolenticular Degeneration | 0.08 | 1 | 0 | RGD |
Nephrosis | 0.08 | 1 | 0 | RGD |
Acute kidney injury | 0.08 | 1 | 0 | RGD |
Malignant neoplasm of prostate | 0.025407253 | 52 | 0 | BeFree_GAD |
Diabetes Mellitus, Insulin-Dependent | 0.021573392 | 52 | 2 | BeFree_GAD_LHGDN |
Osteoporosis | 0.016567886 | 52 | 0 | BeFree_LHGDN |
Prostate carcinoma | 0.014114977 | 52 | 0 | BeFree |
Breast Carcinoma | 0.013843535 | 51 | 0 | BeFree |
Malignant neoplasm of breast | 0.013572094 | 50 | 0 | BeFree |
Prostatic Neoplasms | 0.011168843 | 5 | 0 | BeFree_LHGDN |
Hashimoto Disease | 0.01099709 | 5 | 0 | BeFree_GAD_LHGDN |
Diabetes Mellitus, Non-Insulin-Dependent | 0.009705894 | 17 | 0 | BeFree_GAD_LHGDN |
Graves Disease | 0.009544073 | 11 | 0 | BeFree_GAD |
Autoimmune Diseases | 0.007881746 | 19 | 0 | BeFree_LHGDN |
Colorectal Cancer | 0.006786047 | 25 | 0 | BeFree |
Vitamin D Deficiency | 0.006710102 | 17 | 0 | BeFree_GAD |
Colorectal Carcinoma | 0.006514605 | 24 | 0 | BeFree |
Colonic Neoplasms | 0.00554839 | 5 | 0 | BeFree_GAD |
Addison Disease | 0.004734064 | 2 | 0 | GAD |
Asthma | 0.004538567 | 8 | 0 | BeFree_GAD |
Tuberculosis | 0.004071628 | 15 | 0 | BeFree |
Hypertensive disease | 0.003995683 | 6 | 0 | BeFree_GAD |
Glioblastoma | 0.003810118 | 4 | 0 | BeFree_LHGDN |
melanoma | 0.003800186 | 14 | 9 | BeFree |
Tuberculosis, Pulmonary | 0.003800186 | 14 | 0 | BeFree |
Lupus Erythematosus, Systemic | 0.003528744 | 13 | 0 | BeFree |
Colon Carcinoma | 0.003528744 | 13 | 0 | BeFree |
Diabetic Nephropathy | 0.003452799 | 4 | 0 | BeFree_GAD |
Malignant neoplasm of lung | 0.003452799 | 5 | 0 | BeFree_GAD |
Coronary Artery Disease | 0.003452799 | 5 | 0 | BeFree_GAD |
Epithelial ovarian cancer | 0.003181358 | 4 | 0 | BeFree_GAD |
Mammary Neoplasms | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Malignant tumor of colon | 0.002985861 | 11 | 0 | BeFree |
Gestational Diabetes | 0.002909916 | 3 | 0 | BeFree_GAD |
Dysgerminoma | 0.00272435 | 1 | 0 | LHGDN |
Lung Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Ovarian Carcinoma | 0.002442977 | 9 | 0 | BeFree |
Malignant neoplasm of ovary | 0.002442977 | 9 | 0 | BeFree |
Calcinosis | 0.002367032 | 1 | 0 | GAD |
Heart failure | 0.002367032 | 1 | 0 | GAD |
Chronic Obstructive Airway Disease | 0.002367032 | 1 | 0 | GAD |
Autoimmune thyroiditis | 0.002367032 | 1 | 0 | GAD |
Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | 0.002367032 | 1 | 0 | GAD |
Diabetes Mellitus | 0.002171535 | 8 | 0 | BeFree |
Hyperparathyroidism | 0.002171535 | 8 | 0 | BeFree |
Kidney Failure, Chronic | 0.002171535 | 8 | 0 | BeFree |
Carcinogenesis | 0.002171535 | 8 | 0 | BeFree |
Rectal Carcinoma | 0.001900093 | 7 | 2 | BeFree |
Renal Cell Carcinoma | 0.001900093 | 7 | 0 | BeFree |
Obesity | 0.001900093 | 7 | 0 | BeFree |
Periodontitis | 0.001900093 | 7 | 0 | BeFree |
Chronic Periodontitis | 0.001900093 | 7 | 0 | BeFree |
Urolithiasis | 0.001900093 | 7 | 1 | BeFree |
Rheumatoid Arthritis | 0.001628651 | 6 | 0 | BeFree |
Crohn Disease | 0.001628651 | 6 | 0 | BeFree |
Diabetes | 0.001628651 | 6 | 0 | BeFree |
Gingival Diseases | 0.001628651 | 6 | 0 | BeFree |
Hyperparathyroidism, Secondary | 0.001628651 | 6 | 0 | BeFree |
Periodontal Diseases | 0.001628651 | 6 | 0 | BeFree |
Periodontitis, Juvenile | 0.001628651 | 6 | 0 | BeFree |
Tumor Progression | 0.001628651 | 6 | 0 | BeFree |
Benign Prostatic Hyperplasia | 0.001628651 | 6 | 0 | BeFree |
Liver carcinoma | 0.001628651 | 6 | 0 | BeFree |
Chronic kidney disease stage 5 | 0.001628651 | 6 | 0 | BeFree |
Ulcerative Colitis | 0.001357209 | 5 | 0 | BeFree |
Inflammatory Bowel Diseases | 0.001357209 | 5 | 0 | BeFree |
Degenerative polyarthritis | 0.001357209 | 5 | 0 | BeFree |
Psoriasis | 0.001357209 | 5 | 0 | BeFree |
Carcinoma of lung | 0.001357209 | 5 | 0 | BeFree |
Malignant neoplasm of skin | 0.001085767 | 4 | 0 | BeFree |
Squamous cell carcinoma | 0.001085767 | 4 | 1 | BeFree |
HIV Infections | 0.001085767 | 4 | 0 | BeFree |
Neoplasm Metastasis | 0.001085767 | 4 | 0 | BeFree |
Metabolic Syndrome X | 0.001085767 | 4 | 0 | BeFree |
Hepatitis C, Chronic | 0.001085767 | 4 | 1 | BeFree |
Chronic Kidney Diseases | 0.001085767 | 4 | 0 | BeFree |
Behcet Syndrome | 0.000814326 | 3 | 0 | BeFree |
Non-Small Cell Lung Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Glioma | 0.000814326 | 3 | 0 | BeFree |
Hepatitis B | 0.000814326 | 3 | 0 | BeFree |
Acute Promyelocytic Leukemia | 0.000814326 | 3 | 0 | BeFree |
Lung diseases | 0.000814326 | 3 | 0 | BeFree |
Osteoporosis, Postmenopausal | 0.000814326 | 3 | 0 | BeFree |
Ovarian Diseases | 0.000814326 | 3 | 0 | BeFree |
Kidney Failure | 0.000814326 | 3 | 0 | BeFree |
Sarcoidosis | 0.000814326 | 3 | 0 | BeFree |
Intervertebral Disc Degeneration | 0.000814326 | 3 | 0 | BeFree |
Hyperparathyroidism, Primary | 0.000814326 | 3 | 0 | BeFree |
Psoriasis vulgaris | 0.000814326 | 3 | 0 | BeFree |
Early onset periodontitis | 0.000814326 | 3 | 0 | BeFree |
Adenoma of large intestine | 0.000814326 | 3 | 0 | BeFree |
Sporadic Breast Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Glioblastoma Multiforme | 0.000814326 | 3 | 0 | BeFree |
Experimental Organism Basal Cell Carcinoma | 0.000814326 | 3 | 1 | BeFree |
Acquired Immunodeficiency Syndrome | 0.000542884 | 2 | 0 | BeFree |
Adenoma | 0.000542884 | 2 | 0 | BeFree |
Cooley's anemia | 0.000542884 | 2 | 0 | BeFree |
Bone Diseases | 0.000542884 | 2 | 0 | BeFree |
Calcium Metabolism Disorders | 0.000542884 | 2 | 0 | BeFree |
Malignant tumor of cervix | 0.000542884 | 2 | 0 | BeFree |
Primary biliary cirrhosis | 0.000542884 | 2 | 0 | BeFree |
Diabetic Retinopathy | 0.000542884 | 2 | 0 | BeFree |
Eczema | 0.000542884 | 2 | 0 | BeFree |
External exotoses | 0.000542884 | 2 | 0 | BeFree |
Liver Cirrhosis | 0.000542884 | 2 | 0 | BeFree |
Liver diseases | 0.000542884 | 2 | 0 | BeFree |
Mitral Valve Stenosis | 0.000542884 | 2 | 0 | BeFree |
Parathyroid Neoplasms | 0.000542884 | 2 | 0 | BeFree |
Polycystic Ovary Syndrome | 0.000542884 | 2 | 0 | BeFree |
Ankylosing spondylitis | 0.000542884 | 2 | 0 | BeFree |
Thyroiditis | 0.000542884 | 2 | 0 | BeFree |
Turner Syndrome | 0.000542884 | 2 | 0 | BeFree |
Uveitis | 0.000542884 | 2 | 0 | BeFree |
Vitiligo | 0.000542884 | 2 | 0 | BeFree |
Tooth Loss | 0.000542884 | 2 | 0 | BeFree |
Cutaneous Melanoma | 0.000542884 | 2 | 0 | BeFree |
Secondary malignant neoplasm of bone | 0.000542884 | 2 | 0 | BeFree |
Autoimmune thyroid disease | 0.000542884 | 2 | 0 | BeFree |
Vitamin D-dependent rickets | 0.000542884 | 2 | 0 | BeFree |
Pancreatic carcinoma | 0.000542884 | 2 | 0 | BeFree |
Hepatitis, Autoimmune | 0.000542884 | 2 | 0 | BeFree |
Parathyroid Adenoma | 0.000542884 | 2 | 0 | BeFree |
Cervix carcinoma | 0.000542884 | 2 | 0 | BeFree |
Vitamin D-Dependent Rickets, Type 2A | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of pancreas | 0.000542884 | 2 | 0 | BeFree |
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site | 0.000542884 | 2 | 0 | BeFree |
Nephrolithiasis | 0.000542884 | 2 | 0 | BeFree |
Primary osteoporosis | 0.000542884 | 2 | 0 | BeFree |
Neurodegenerative Disorders | 0.000542884 | 2 | 0 | BeFree |
Hepatitis B, Chronic | 0.000542884 | 2 | 0 | BeFree |
Idiopathic hypercalciuria | 0.000542884 | 2 | 0 | BeFree |
Thyroid carcinoma | 0.000542884 | 2 | 0 | BeFree |
Malignant Glioma | 0.000542884 | 2 | 0 | BeFree |
Differentiated Thyroid Gland Carcinoma | 0.000542884 | 2 | 7 | BeFree |
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) | 0.000542884 | 2 | 0 | BeFree |
Osteophyte | 0.000542884 | 2 | 0 | BeFree |
Prostate cancer, familial | 0.000542884 | 2 | 0 | BeFree |
Familial Hypophosphatemic Rickets | 0.000542884 | 2 | 0 | BeFree |
Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Anemia | 0.000271442 | 1 | 0 | BeFree |
Arthralgia | 0.000271442 | 1 | 0 | BeFree |
Barrett Esophagus | 0.000271442 | 1 | 0 | BeFree |
Bladder Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Bronchopulmonary Dysplasia | 0.000271442 | 1 | 0 | BeFree |
Cachexia | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of thyroid | 0.000271442 | 1 | 0 | BeFree |
Celiac Disease | 0.000271442 | 1 | 0 | BeFree |
Cholestasis | 0.000271442 | 1 | 0 | BeFree |
Choriocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Colitis | 0.000271442 | 1 | 0 | BeFree |
Coronary Arteriosclerosis | 0.000271442 | 1 | 0 | BeFree |
Coronary heart disease | 0.000271442 | 1 | 0 | BeFree |
Dermatitis, Atopic | 0.000271442 | 1 | 0 | BeFree |
Eosinophilia | 0.000271442 | 1 | 0 | BeFree |
Female Genital Diseases | 0.000271442 | 1 | 0 | BeFree |
Congestive heart failure | 0.000271442 | 1 | 0 | BeFree |
Severe Dengue | 0.000271442 | 1 | 0 | BeFree |
Hip Dislocation, Congenital | 0.000271442 | 1 | 0 | BeFree |
Hypercalciuria | 0.000271442 | 1 | 0 | BeFree |
Hyperthyroidism | 0.000271442 | 1 | 0 | BeFree |
Hypoparathyroidism | 0.000271442 | 1 | 0 | BeFree |
Keloid | 0.000271442 | 1 | 0 | BeFree |
Keratosis | 0.000271442 | 1 | 0 | BeFree |
Actinic keratosis | 0.000271442 | 1 | 0 | BeFree |
leukemia | 0.000271442 | 1 | 0 | BeFree |
Liver Cirrhosis, Alcoholic | 0.000271442 | 1 | 0 | BeFree |
Liver neoplasms | 0.000271442 | 1 | 0 | BeFree |
Lymphoma, Non-Hodgkin | 0.000271442 | 1 | 0 | BeFree |
Malaria | 0.000271442 | 1 | 0 | BeFree |
Malaria, Vivax | 0.000271442 | 1 | 0 | BeFree |
Measles | 0.000271442 | 1 | 0 | BeFree |
Metabolic Diseases | 0.000271442 | 1 | 1 | BeFree |
Mycoses | 0.000271442 | 1 | 0 | BeFree |
Neuromyelitis Optica | 0.000271442 | 1 | 0 | BeFree |
Osteomalacia | 0.000271442 | 1 | 0 | BeFree |
Parkinson Disease | 0.000271442 | 1 | 0 | BeFree |
Psychotic Disorders | 0.000271442 | 1 | 0 | BeFree |
Retinal Diseases | 0.000271442 | 1 | 0 | BeFree |
Septicemia | 0.000271442 | 1 | 0 | BeFree |
Thalassemia | 0.000271442 | 1 | 0 | BeFree |
Uremia | 0.000271442 | 1 | 0 | BeFree |
Uterine Fibroids | 0.000271442 | 1 | 0 | BeFree |
Lymphoma, Large-Cell, Follicular | 0.000271442 | 1 | 0 | BeFree |
Depressive Symptoms | 0.000271442 | 1 | 0 | BeFree |
Left Ventricular Hypertrophy | 0.000271442 | 1 | 0 | BeFree |
Humoral hypercalcemia of malignancy (disorder) | 0.000271442 | 1 | 0 | BeFree |
Adenocarcinoma of lung (disorder) | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of gallbladder | 0.000271442 | 1 | 0 | BeFree |
Infections, Hospital | 0.000271442 | 1 | 0 | BeFree |
Tuberculosis, Multidrug-Resistant | 0.000271442 | 1 | 0 | BeFree |
Follicular thyroid carcinoma | 0.000271442 | 1 | 7 | BeFree |
Cholangiocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Gallbladder Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Papillary thyroid carcinoma | 0.000271442 | 1 | 7 | BeFree |
Acute lower respiratory tract infection | 0.000271442 | 1 | 0 | BeFree |
Fibrosis, Liver | 0.000271442 | 1 | 0 | BeFree |
Sepsis | 0.000271442 | 1 | 0 | BeFree |
Osteoarthritis of the hand | 0.000271442 | 1 | 0 | BeFree |
Hypercalcemia, Idiopathic, of Infancy | 0.000271442 | 1 | 0 | BeFree |
Tertiary hyperparathyroidism | 0.000271442 | 1 | 0 | BeFree |
Cancer of Head and Neck | 0.000271442 | 1 | 0 | BeFree |
Liver and Intrahepatic Biliary Tract Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Squamous cell carcinoma of esophagus | 0.000271442 | 1 | 0 | BeFree |
Conventional (Clear Cell) Renal Cell Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Solid tumour | 0.000271442 | 1 | 0 | BeFree |
stage, non-small cell lung cancer | 0.000271442 | 1 | 0 | BeFree |
Restenosis | 0.000271442 | 1 | 0 | BeFree |
Chronic liver disease | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of liver | 0.000271442 | 1 | 0 | BeFree |
Nonorganic psychosis | 0.000271442 | 1 | 0 | BeFree |
Osteoarthritis of distal interphalangeal joint | 0.000271442 | 1 | 0 | BeFree |
Stomach Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Atrichia | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of kidney | 0.000271442 | 1 | 0 | BeFree |
early pregnancy | 0.000271442 | 1 | 0 | BeFree |
Plasmodium vivax infection | 0.000271442 | 1 | 0 | BeFree |
ovarian neoplasm | 0.000271442 | 1 | 0 | BeFree |
Ischemic stroke | 0.000271442 | 1 | 0 | BeFree |
Denys-Drash Syndrome | 0.000271442 | 1 | 0 | BeFree |
Heart Failure, Systolic | 0.000271442 | 1 | 0 | BeFree |
Eosinophilic disorder | 0.000271442 | 1 | 0 | BeFree |
Renal carcinoma | 0.000271442 | 1 | 0 | BeFree |
Cervical spondylosis | 0.000271442 | 1 | 0 | BeFree |
Sjogren's Syndrome | 0.000271442 | 1 | 0 | BeFree |
Nephrogenic Fibrosing Dermopathy | 0.000271442 | 1 | 0 | BeFree |
Cirrhosis | 0.000271442 | 1 | 0 | BeFree |
Disorder characterized by eosinophilia | 0.000271442 | 1 | 0 | BeFree |
Hypophosphatemic Rickets | 0.000271442 | 1 | 0 | BeFree |
Aggressive periodontitis, generalized | 0.000271442 | 1 | 0 | BeFree |
Slow acetylator due to N-acetyltransferase enzyme variant | 0.000271442 | 1 | 0 | BeFree |
Mammographic Density | 0.000271442 | 1 | 0 | BeFree |
ATRICHIA WITH PAPULAR LESIONS | 0.000271442 | 1 | 0 | BeFree |
Syndactyly, Type IV | 0.000271442 | 1 | 0 | BeFree |
Vitamin D-resistant rickets | 0.000271442 | 1 | 0 | BeFree |
Ischemic Cerebrovascular Accident | 0.000271442 | 1 | 0 | BeFree |
Juvenile arthritis | 0.000271442 | 1 | 0 | BeFree |
Juvenile rheumatoid arthritis | 0.000271442 | 1 | 0 | BeFree |
AIDS (Disease) | 0.000271442 | 1 | 0 | BeFree |
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