Mouse Cytochrome P450 11B1, mitochondrial (CYP11B1) ELISA Kit | CYP11B1 elisa kit
Mouse Cytochrome P450 11B1, mitochondrial (CYP11B1) ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
CYP11B1: Has steroid 11-beta-hydroxylase activity. In addition to this activity, the 18 or 19-hydroxylation of steroids and the aromatization of androstendione to estrone have also been ascribed to cytochrome P450 XIB. Defects in CYP11B1 are the cause of adrenal hyperplasia type 4 (AH4). AH4 is a form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: salt wasting (SW, the most severe type), simple virilizing (SV, less severely affected patients), with normal aldosterone biosynthesis, non-classic form or late onset (NC or LOAH), and cryptic (asymptomatic). AH4 patients usually have hypertension. Defects in CYP11B1 are a cause of familial hyperaldosteronism type 1 (FH1). It is a disorder characterized by hypertension, variable hyperaldosteronism, and abnormal adrenal steroid production, including 18-oxocortisol and 18-hydroxycortisol. There is significant phenotypic heterogeneity, and some individuals never develop hypertension. The molecular defect causing hyperaldosteronism familial type 1 is an anti-Lepore-type fusion of the CYP11B1 and CYP11B2 genes. The hybrid gene has the promoting part of CYP11B1, ACTH-sensitive, and the coding part of CYP11B2. Belongs to the cytochrome P450 family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Lipid Metabolism - C21-steroid hormone; Lipid Metabolism - androgen and estrogen; Mitochondrial; EC 1.14.15.4; Oxidoreductase
Chromosomal Location of Human Ortholog: 8q21
Cellular Component: mitochondrion; mitochondrial inner membrane
Molecular Function: steroid 11-beta-monooxygenase activity; iron ion binding; heme binding
Biological Process: steroid metabolic process; regulation of blood pressure; xenobiotic metabolic process; C21-steroid hormone biosynthetic process; immune response; glucose homeostasis; glucocorticoid biosynthetic process; sterol metabolic process; aldosterone biosynthetic process; cellular response to hormone stimulus
Disease: Glucocorticoid-remediable Aldosteronism; Adrenal Hyperplasia, Congenital, Due To Steroid 11-beta-hydroxylase Deficiency
Research Articles on CYP11B1
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Product Notes
The Mouse CYP11B1 cyp11b1 (Catalog #AAA7244241) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA7244241 ELISA Kit recognizes Mouse CYP11B1. It is sometimes possible for the material contained within the vial of "Cytochrome P450 11B1, mitochondrial (CYP11B1), ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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