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we report clinical, genetic, hormonal, and structural effects of CYP11B1 gene mutations in the largest international cohort of 108 patients with steroid 11b-hydroxylase deficiency CAH (show CA1 Proteins).
One known and two novel CYP11B1 mutations are associated with congenital adrenal hyperplasia in a Chinese family. The two novel CYP11B1 mutations change heme binding site and decrease 11-hydroxylase activity in vitro.
Data suggest that binding sites between CYP11B1/CYP11B2 and adrenodoxin/ferredoxin-1 exhibit electrostatic interactions at K370 in CYP11B1 and at K366 in CYP11B2 mutant R366K with D79 in adrenodoxin/ferredoxin-1. (CYP11B1 = cytochrome P450 family 11 subfamily B member 1; CYP11B2 = cytochrome P450 family 11 subfamily B member 2)
analysis of CYP11B1 gene mutations in Turkish patients with 11-beta hydroxylase deficiency
CYP11B1 mutants are a rare cause of congenital adrenal hyperplasia with hyperandrogenemia.
Letter/Case Report: compound heterozygous CYP11B1 p.A199P/R448H mutation may predict severe congenital adrenal hypoplasia with severe hypokalemia leading to rhabdomyolysis.
Data from a 19-year-old Chinese woman and her parents suggest congenital adrenal hyperplasia due to steroid 11beta-hydroxylase deficiency can be attributed to both a novel deletion mutation (g.9525_9526delCT, corresponding to p.L380V em leaderR420X) and a known missense mutation (g.5194G>C corresponding to p.D63H) in CYP11B1. [CASE-REPORT]
Congenital adrenal hyperplasia caused by novel mutations in the CYP11B1 gene.
Chimeric CYP11B2 (show CYP11B2 Proteins)/CYP11B1 causing 11beta-hydroxylase deficiency in Chinese patients with congenital adrenal hyperplasia
Seven novel CYP11B1 mutations identified in Chinese patients with 11 beta-hydroxylase deficiency.
Cyp11b1 is induced in the murine gonad by luteinizing hormone/human chorionic gonadotropin and involved in the production of 11-ketotestosterone, a major fish androgen.
3-methylsulfonyl-DDE and related compounds did not alter Cyp11b1 gene expression in adrenocortical Y-1 cells indicating that compound-induced enzyme inhibition occurs on the protein level.
These data showed that in the adrenal gland, PREB (show PREB Proteins) regulates the transcription of the CYP11B1 gene via cAMP.
Cyp11b1 null mouse, a model of congenital adrenal hyperplasia
A simultaneous analysis of the influence of CYP11B1 and DGAT1 (show DGAT1 Proteins) on multiple variables of a German Holstein pedigree is presented.
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.
cytochrome P450 11B1, mitochondrial
, cytochrome P-450c11
, cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1
, cytochrome P450C11
, cytochrome p450 XIB1
, steroid 11-beta-hydroxylase
, steroid 11-beta-monooxygenase
, Cytochrome P450, subfamily XIB, polypeptide 1 (steroid 11-beta-hydroxylase)
, P450(11 beta)-DS
, aldosterone synthase
, cytochrome P450(11 beta)-DS
, cytochrome P450, subfamily 11B, polypeptide 1