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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 endoplasmic reticulum and hydroxylates steroids at the 21 position. Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone. Mutations in this gene cause congenital adrenal hyperplasia. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought to account for many cases of steroid 21-hydroxylase deficiency. Two transcript variants encoding different isoforms have been found 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。此蛋白质定位于内质网并在21位羟化类固醇。其活性所需的类固醇激素,包括皮质醇和醛固酮的合成。突变这个基因导致先天性肾上腺皮质增生症。一个相关的假基因位于该基因附近;涉及功能性基因和假基因转化事件被认为占类固醇21-羟化酶缺陷的情况很多。已发现该基因编码不同亚型的两个转录变异体。 [由RefSeq的,2008年7月提供]
CYP21A2基因(以及对应的蛋白质)的细胞分布位置:
CYP21A2基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency | 0.302953446 | 159 | 12 | BeFree_CTD_human_GAD_UNIPROT |
Congenital adrenal hyperplasia | 0.293756693 | 261 | 9 | BeFree_CTD_human_GAD_LHGDN |
21-hydroxylase deficiency | 0.155016001 | 129 | 19 | BeFree_CLINVAR |
Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency | 0.12 | 0 | 0 | CLINVAR |
Chronic active hepatitis | 0.042344932 | 156 | 6 | BeFree |
Hyperandrogenism | 0.017545371 | 13 | 0 | BeFree_GAD_LHGDN |
Polycystic Ovary Syndrome | 0.009087065 | 7 | 1 | BeFree_GAD_LHGDN |
Virilism | 0.004810009 | 9 | 1 | BeFree_GAD |
Autoimmune Diseases | 0.003181358 | 4 | 0 | BeFree_GAD |
Adrenal Cortical Adenoma | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Adenoma | 0.002638474 | 2 | 0 | BeFree_GAD |
Adrenal Gland Neoplasms | 0.002638474 | 2 | 0 | BeFree_GAD |
Hypertensive disease | 0.002638474 | 1 | 3 | BeFree_GAD |
Late-onset congenital adrenal hyperplasia | 0.002638474 | 2 | 0 | BeFree_GAD |
Precocious pubarche | 0.002638474 | 2 | 0 | BeFree_GAD |
Spontaneous abortion | 0.002367032 | 1 | 0 | GAD |
Acne Vulgaris | 0.002367032 | 1 | 0 | GAD |
Rheumatoid Arthritis | 0.002367032 | 1 | 0 | GAD |
Autistic Disorder | 0.002367032 | 1 | 0 | GAD |
Cystic Fibrosis | 0.002367032 | 1 | 0 | GAD |
Hirsutism | 0.002367032 | 1 | 0 | GAD |
Hyperplasia | 0.002367032 | 1 | 0 | GAD |
Chronic Lymphocytic Leukemia | 0.002367032 | 1 | 0 | GAD |
Chronic Obstructive Airway Disease | 0.002367032 | 1 | 0 | GAD |
Lymphoma, Follicular | 0.002367032 | 1 | 0 | GAD |
Lymphoma, Non-Hodgkin | 0.002367032 | 1 | 0 | GAD |
Opportunistic Infections | 0.002367032 | 1 | 0 | GAD |
Deficiency of steroid 21-monooxygenase | 0.001628651 | 6 | 0 | BeFree |
Adrenal hypertrophy or hyperplasia | 0.001628651 | 6 | 0 | BeFree |
Adrenal hyperplasia | 0.001628651 | 6 | 0 | BeFree |
Precocious Puberty | 0.001085767 | 4 | 0 | BeFree |
Carbamoyl-Phosphate Synthase I Deficiency Disease | 0.001085767 | 4 | 0 | BeFree |
Metabolic Diseases | 0.000814326 | 3 | 0 | BeFree |
Ovarian Diseases | 0.000814326 | 3 | 0 | BeFree |
Wasting Syndrome | 0.000814326 | 3 | 0 | BeFree |
Ambiguous Genitalia | 0.000814326 | 3 | 0 | BeFree |
Salt-losing congenital adrenal hyperplasia | 0.000814326 | 3 | 0 | BeFree |
Premature adrenarche | 0.000814326 | 3 | 0 | BeFree |
Liver carcinoma | 0.000814326 | 3 | 0 | BeFree |
Endocrine System Diseases | 0.000542884 | 2 | 0 | BeFree |
Hypoaldosteronism | 0.000542884 | 2 | 0 | BeFree |
Liver neoplasms | 0.000542884 | 2 | 0 | BeFree |
Lupus Erythematosus, Systemic | 0.000542884 | 2 | 0 | BeFree |
Inborn Errors of Metabolism | 0.000542884 | 2 | 0 | BeFree |
Autoimmune Primary Adrenal Insufficiency | 0.000542884 | 2 | 0 | BeFree |
Addison Disease | 0.000271442 | 1 | 0 | BeFree |
Tumors of Adrenal Cortex | 0.000271442 | 1 | 0 | BeFree |
Adrenal gland hypofunction | 0.000271442 | 1 | 0 | BeFree |
Common Variable Immunodeficiency | 0.000271442 | 1 | 0 | BeFree |
Infection by Cryptococcus neoformans | 0.000271442 | 1 | 0 | BeFree |
Ehlers-Danlos Syndrome | 0.000271442 | 1 | 0 | BeFree |
Exanthema | 0.000271442 | 1 | 0 | BeFree |
Hypertrichosis | 0.000271442 | 1 | 2 | BeFree |
Mental Retardation | 0.000271442 | 1 | 0 | BeFree |
Obesity | 0.000271442 | 1 | 0 | BeFree |
Sex Chromosome Aberrations | 0.000271442 | 1 | 0 | BeFree |
Urea Cycle Disorders, Inborn | 0.000271442 | 1 | 0 | BeFree |
Adrenoleukodystrophy | 0.000271442 | 1 | 0 | BeFree |
Immunoglobulin A deficiency (disorder) | 0.000271442 | 1 | 0 | BeFree |
Mild steroid 21-hydroxylase deficiency | 0.000271442 | 1 | 0 | BeFree |
Reifenstein Syndrome | 0.000271442 | 1 | 1 | BeFree |
Addison's disease due to autoimmunity | 0.000271442 | 1 | 0 | BeFree |
Liver and Intrahepatic Biliary Tract Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of liver | 0.000271442 | 1 | 0 | BeFree |
Adrenal cortical hypofunction | 0.000271442 | 1 | 0 | BeFree |
Necrotizing Enterocolitis | 0.000271442 | 1 | 0 | BeFree |
Spots on skin | 0.000271442 | 1 | 0 | BeFree |
Hepatocarcinogenesis | 0.000271442 | 1 | 0 | BeFree |
Mineralocorticoid deficiency | 0.000271442 | 1 | 0 | BeFree |
Adrenal incidentaloma | 0.000271442 | 1 | 0 | BeFree |
11-Beta-hydroxylase deficiency | 0.000271442 | 1 | 0 | BeFree |
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