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anti-Human CYP11B1 Anticorps:
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Human Polyclonal CYP11B1 Primary Antibody pour WB - ABIN611372
Hassett, Aicher, Sidhu, Omiecinski: Human microsomal epoxide hydrolase: genetic polymorphism and functional expression in vitro of amino acid variants. dans Human molecular genetics 1994
Show all 3 Pubmed References
Divergent gender identity was observed in three severely masculinized 46XX siblings with congenital adrenal hyperplasia who carried the same CYP11B1 mutation and had comparable postnatal and probably prenatal androgen exposure and environmental circumstances
Mutation in CYP11B1 gene is associated with 11 beta-hydroxylase deficiency
CYP11B1 mutations were associated with highly variable phenotypes, from mild to severe virilization, and early-onset hypertension or salt wasting.
p.L340P CYP11B1 mutation is associated with 11beta-Hydroxylase deficiency.
CYP11B1 silencing confirmed the lack of a significant metyrapone effect on mitotane action. The present findings do not support the view that CYP11B1 catalyzes a crucial step in the metabolic activation of mitotane and that CYP11B1 confers the adrenal specificity to mitotane
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.
We conclude that 11 beta-OHD in Saudi Arabia has a unique genotype with a high rate of novel mutations. The novel p. R448P mutation is the most common mutation in this highly inbred population.
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/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.
Mutations in the CYP11B1 gene are the cause of 11beta-hydroxylase deficiency.
study of the functional consequences of 3 novel and 1 previously described CYP11B1 gene mutations (p.(Arg143Trp), p.(Ala306Val), p.(Glu310Lys) and p.(Arg332Gln)) detected in patients suffering from classical and non-classical 11beta-OHD
Heterogenous immunolocalization of CYP11B2 and diffuse immunoreactivity of CYP11B1 were detected.
Data from recombinant proteins suggest three additional mutations in CYP11B1 (p.His125Thrfs*8; p.Leu463_Leu464dup; p.Ser150Leu) can account for congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency (classical/non-classical phenotype).
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 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 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