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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. This protein localizes to the mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [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。此蛋白质定位于线粒体内膜,并参与孕酮在肾上腺皮质转化为皮质醇。突变由于11-β羟化酶缺乏这种基因的原因先天性肾上腺皮质增生症。编码不同亚型的变种成绩单已经注意到了这个基因。 [由RefSeq的,2008年7月提供]
CYP11B1基因(以及对应的蛋白质)的细胞分布位置:
CYP11B1基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency | 0.487871814 | 31 | 3 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
| Glucocorticoid-remediable aldosteronism | 0.364071628 | 15 | 0 | BeFree_CLINVAR_CTD_human_ORPHANET |
| Hyperaldosteronism | 0.127729856 | 5 | 0 | BeFree_CTD_human_GAD_LHGDN |
| Congenital adrenal hyperplasia | 0.020864805 | 31 | 2 | BeFree_GAD_LHGDN |
| Hypertensive disease | 0.018545262 | 21 | 0 | BeFree_GAD |
| 11-Beta-hydroxylase deficiency | 0.007600372 | 28 | 2 | BeFree |
| Deficiency of monooxygenase | 0.004071628 | 15 | 3 | BeFree |
| Adenoma | 0.002985861 | 11 | 0 | BeFree |
| Chronic active hepatitis | 0.002985861 | 11 | 0 | BeFree |
| Adrenal Cortical Adenoma | 0.002638474 | 2 | 0 | BeFree_GAD |
| Tumors of Adrenal Cortex | 0.002367032 | 1 | 0 | GAD |
| Autistic Disorder | 0.002367032 | 1 | 0 | GAD |
| Malignant neoplasm of breast | 0.002367032 | 1 | 0 | GAD |
| Cardiovascular Diseases | 0.002367032 | 1 | 0 | GAD |
| Lymphoma, Non-Hodgkin | 0.002367032 | 1 | 0 | GAD |
| Coronary Artery Disease | 0.002367032 | 1 | 0 | GAD |
| Conn Syndrome | 0.002171535 | 8 | 0 | BeFree |
| Familial Hyperaldosteronism | 0.001900093 | 7 | 0 | BeFree |
| Adrenal Gland Neoplasms | 0.000814326 | 3 | 0 | BeFree |
| Congestive heart failure | 0.000542884 | 2 | 0 | BeFree |
| Virilism | 0.000542884 | 2 | 1 | BeFree |
| Essential Hypertension | 0.000542884 | 2 | 0 | BeFree |
| Adrenal hypertrophy or hyperplasia | 0.000542884 | 2 | 0 | BeFree |
| Familial Testotoxicosis | 0.000542884 | 2 | 1 | BeFree |
| 21-hydroxylase deficiency | 0.000542884 | 2 | 0 | BeFree |
| Adrenal hyperplasia | 0.000542884 | 2 | 0 | BeFree |
| Congenital adrenal hyperplasia due to 21 hydroxylase deficiency | 0.000542884 | 2 | 0 | BeFree |
| Adrenal gland hypofunction | 0.000271442 | 1 | 0 | BeFree |
| Bartter Disease | 0.000271442 | 1 | 0 | BeFree |
| Coughing | 0.000271442 | 1 | 0 | BeFree |
| Hypokalemic alkalosis | 0.000271442 | 1 | 0 | BeFree |
| Corticosterone Methyl Oxidase Type I Deficiency | 0.000271442 | 1 | 0 | BeFree |
| Adrenocortical hyperplasia | 0.000271442 | 1 | 0 | BeFree |
| Adrenal cortical hypofunction | 0.000271442 | 1 | 0 | BeFree |
| Carcinogenesis | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of kidney | 0.000271442 | 1 | 0 | BeFree |
| Enzyme inhibition disorder | 0.000271442 | 1 | 0 | BeFree |
| Renal carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Corticosterone Methyl Oxidase Type II Deficiency | 0.000271442 | 1 | 0 | BeFree |
| Familial hyperaldosteronism type 1 | 0.000271442 | 1 | 0 | BeFree |
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