2024年12月24日 · CYP11B1 (Cytochrome P450 Family 11 Subfamily B Member 1) is a Protein Coding gene. Diseases associated with CYP11B1 include Hyperaldosteronism, Familial, Type I and Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency. Among its related pathways are Oxidation by cytochrome P450 and Metabolism of steroid hormones.

Humans have two isozymes with 11β-hydroxylase activity: CYP11B1 and CYP11B2. CYP11B1 (11β-hydroxylase) is expressed at high levels and is regulated by ACTH, while CYP11B2 (aldosterone synthase) is usually expressed at low levels and is regulated by angiotensin II.

1．酶特性：CYP11B1酶位于腺粒体内膜，催化11-去氧皮质醇和11-去氧皮质酮（DOC）分别转变为 皮质醇 和 皮质酮。 该酶缺陷导致皮质醇合成减少，ACTH分泌增多，酶催化反应步骤的前体类固醇11-去氧皮质醇、DOC和雄激素蓄积。 2．基因：CYP11B1基因定位于8q，有9个外显子。 在束状带表达，表达过程主要受ACTH调节。 CYP11B1缺乏症是基因突变所致，迄今所发现的突变形式有无义突变、误义突变、变构突变和3个核苷酸插入，半数以上的突变发生在外显子6~8。 …

More than 80 mutations in the CYP11B1 gene have been found to cause congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency, a disorder in which the adrenal glands produce excess male sex hormones (androgens). Most of these mutations change single protein building blocks (amino acids) in the 11-beta-hydroxylase enzyme and ...

We describe a family with an atypical CYP11B1/CYP11B2 gene inheritance pattern and variable phenotypic expression, where the majority of pediatric patients have primary aldosteronism. CYP11B1 is overexpressed in subclinical cortisol-producing adenomas and its overexpression accounts for the increased production of cortisol

人类肾上腺皮质有两种细胞色素P450同工酶（CYP11B1 即P450C11，CYP11B2即P450c11Aldo）具有11β-羟化酶活性，两种同工酶均能使11-去氧皮质酮和11-去氧皮质醇11β-羟化，分别催化皮质醇和皮质酮的合成。

11β-羟化酶缺乏症(11β-hydroxylase deficiency，11β-OHD)是先天性肾上腺皮质增生症(congenital adrenal hyperplasia，CAH)的一种，由CYP11B1基因突变所致。该基因突变使11β-羟化酶功能破坏，11-去氧皮质醇转化为皮质醇受阻，而合成皮质醇的前体物质包括11-去氧皮质酮 ...

2013年9月11日 · As CYP11B1 mutations are most often individual for a family, the in vitro analysis of novel mutations is essential for clinical and genetic counselling. Congenital adrenal hyperplasia (CAH) is a...

2024年4月22日 · Clinical resource with information about CYP11B1, Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

2009年6月30日 · The CYP11B1 gene encodes a steroid 11-beta-hydroxylase (EC 1.14.15.4) that functions primarily in mitochondria in the zona fasciculata of the adrenal cortex to convert 11-deoxycortisol to cortisol and 11-deoxycorticosterone to corticosterone.