CYP11B1 Antibody

1. The p.L340P CYP11B1 mutation has been linked to 11beta-Hydroxylase deficiency. PMID: 29703198
2. Silencing of CYP11B1 expression confirmed the lack of a significant metyrapone effect on mitotane action. These findings suggest that CYP11B1 does not play a critical role in the metabolic activation of mitotane and that the adrenal specificity of mitotane is not mediated by CYP11B1. PMID: 29734384
3. This study provides a comprehensive analysis of clinical, genetic, hormonal, and structural effects of CYP11B1 gene mutations in the largest international cohort of 108 patients with steroid 11b-hydroxylase deficiency CAH. PMID: 28228528
4. This study suggests that 11 beta-OHD in Saudi Arabia has a distinct genotype with a high prevalence of novel mutations. The novel p. R448P mutation is the most frequent mutation observed in this highly inbred population. PMID: 28962970
5. This study identified one known and two novel CYP11B1 mutations associated with congenital adrenal hyperplasia in a Chinese family. The two novel mutations affect the heme binding site and decrease 11-hydroxylase activity in vitro. PMID: 28514642
6. Data indicate 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) PMID: 28355486
7. This study investigates CYP11B1 gene mutations in Turkish patients with 11-beta hydroxylase deficiency. PMID: 26956189
8. CYP11B1 mutants are a rare cause of congenital adrenal hyperplasia with hyperandrogenemia. PMID: 27376426
9. This letter/case report highlights that a compound heterozygous CYP11B1 p.A199P/R448H mutation may predict severe congenital adrenal hypoplasia with severe hypokalemia leading to rhabdomyolysis. PMID: 27376433
10. 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] PMID: 26806323
11. This study investigated congenital adrenal hyperplasia caused by novel mutations in the CYP11B1 gene. PMID: 26476331
12. This study identified chimeric CYP11B2/CYP11B1 causing 11beta-hydroxylase deficiency in Chinese patients with congenital adrenal hyperplasia. PMID: 26066897
13. Seven novel CYP11B1 mutations were identified in Chinese patients with 11 beta-hydroxylase deficiency. PMID: 25911436
14. Mutations in the CYP11B1 gene are the underlying cause of 11beta-hydroxylase deficiency. PMID: 25913739
15. This study examined 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. PMID: 24022297
16. Heterogenous immunolocalization of CYP11B2 and diffuse immunoreactivity of CYP11B1 were detected. PMID: 24837548
17. 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). PMID: 24536089
18. Analysis of the CYP11B1 gene revealed two novel mutations, a small insertion in exon 7 (InsAG393) and a small deletion in exon 2 (DelG766), and three previously known missense mutations (T318M, Q356X, and R427H). PMID: 23345044
19. Expression of P45011beta and StAR (steroidogenic acute regulatory protein) is down-regulated in adrenocortical cells and neurons under oxidative stress by ALADIN (triple A syndrome protein, human) knockdown. PMID: 23825130
20. This study identified and functionally characterized a large deletion of the CYP11B1 gene causing an 11beta-Hydroxylase deficiency. PMID: 23146819
21. Functional analysis of heterozygous human adrenal tissue demonstrated decreased CYP11B2 expression and increased CYP11B1 expression for those alleles associating with reduced risk of hypertension. PMID: 23150505
22. CYP11B1 gene mutations were identified in nine patients, with a prevalent (p.R454C) and three novel mutations (p.V148G, IVS7-9C>A, c.1359_1360insG). PMID: 22964742
23. Mutations in the CYP11B1 gene are associated with congenital adrenal hyperplasia. PMID: 22921894
24. Hypertensives homozygous for the -344 T allele of CYP11B2 demonstrate altered 11beta-hydroxylase efficiency (CYP11B1); this is consistent with the hypothesis of a genetically determined increase in adrenal ACTH drive in these subjects. PMID: 17651452
25. Both CMO I/CYP11B1 and CMO II/CYP11B2 (expressed as recombinant proteins in COS-7 cells) exhibit steroid 11-beta-hydroxylase activity, but only CMO II/CYP11B2 exhibits steroid 18-hydroxylase activity to form aldosterone. [REVIEW] PMID: 22217843
26. This study describes a family with an atypical CYP11B1/CYP11B2 gene inheritance pattern and variable phenotypic expression, where the majority of pediatric patients have primary aldosteronism. PMID: 22083159
27. CYP11B1 is overexpressed in subclinical cortisol-producing adenomas and its overexpression accounts for the increased production of cortisol. PMID: 21848792
28. A definitive diagnosis of glucocorticoid-remediable aldosteronism can only be established by identifying the CYP11B1/CYP11B2 chimeric gene. PMID: 21625068
29. This study describes an unprecedented case of unequal cross-over mutation for the chimeric CYP11B1/CYP11B2 gene causing familial hyperaldosteronism-I, which may be linked to a polymorphism in the index case's father germ line. PMID: 20634641
30. A novel missense mutation (p.R454C) in the CYP11B1 gene was identified. PMID: 20947076
31. This study highlights the importance of adrenal steroid synthesis in the development of hypertension and cardiovascular dysfunction, as well as the role of common polymorphisms in adrenal synthetic genes in altering corticosteroid biosynthesis. PMID: 21164264
32. In 15 unrelated Tunisian patients with classical 11beta-hydroxylase deficiency, only 2 mutations were detected in homozygous state in the CYP11B1 gene: the p.Q356X in exon 6 (26.6%) and the novel p.G379V in exon 7 with large prevalence (73.3%). PMID: 20331679
33. Each CYP11B1 mutation in this study is novel and unique, in contrast to the high incidence of two specific Tunisian mutations. PMID: 20523022
34. The chimeric gene CYP11B1/CYP11B2 (crossover located between intron 2 of CYP11B1 and exon 3 of CYP11B2) causes Glucocorticoid-remediable aldosteronism. (CTP11B1) PMID: 20808686
35. Aldosterone-producing adenoma patients were genotyped for rs6410 (G22 5A)& rs6387 (A2803G). DNA polymorphisms at the CYP11B2/B1 locus may contribute to susceptibility to postoperative hypertension in patients with APA. PMID: 20708777
36. This study found a significant association between polymorphisms in the CYP11B2 and CYP11B1 genes and a genetic predisposition to idiopathic hyperaldosteronism. PMID: 20339375
37. Functional analysis results allow for the classification of novel CYP11B1 mutations as causative for classic and nonclassic 11OHD, respectively. PMID: 20089618
38. This study investigates the role of CYP11B1 in familial hyperaldosteronism. PMID: 11903322
39. This study explored the differential regulation of aldosterone synthase and 11beta-hydroxylase transcription by steroidogenic factor-1. PMID: 11932209
40. This study identified a novel nonsense mutation that converts codon 265 CAG (glutamine) to TAG (stop) of exon 4; the patient suffers from complete loss of the final step in cortisol biosynthesis pathway due to the nonsense mutation. PMID: 14682466
41. This study found that a molecular variant in CYP11B2 is in linkage disequilibrium (LD) with a key quantitative trait in CYP11B1. PMID: 15507509
42. Linkage disequilibrium between causative CYP11B1 variants and CYP11B2 polymorphisms account for urinary 11-deoxycortisol excretion. PMID: 15522937
43. Mutations in CYP11B1 are associated with congenital adrenal hyperplasia. PMID: 15699546
44. DNA analysis of the CYP11B1 gene was used for prenatal diagnosis of 11beta-hydroxylase deficiency, and prenatal dexamethasone treatment was successful in preventing virilization in one affected female fetus. PMID: 15751602
45. The L299P mutation causes a change in the position of the I helix relative to the heme group, whereas the DeltaF438 mutation results in a steric disarrangement of the heme group relative to the enzyme, leading to congenital adrenal hyperplasia. PMID: 15755848
46. This study found that the micro-satellite polymorphism (tttta)n of the CYP11 alpha gene exists in Chinese women, but the polymorphism is not related to the pathogenesis of hyperandrogenism in women with polycystic ovary syndrome. PMID: 15793791
47. PCB126 up-regulates steroidogenic CYP11B1 and CYP11B2 mRNA expression, not through AhR-mediated transcriptional activation, but by increasing posttranscriptional mRNA stability. PMID: 16396990
48. Aldosterone synthesis is highly heritable and is influenced by genotype at CYP11B1. PMID: 16984984
49. Impaired 11beta-hydroxylase efficiency, previously associated with the CYP11B2 -344 and intron conversion variants, is due to linkage with newly identified polymorphisms in CYP11B1. PMID: 17075029
50. This study did not identify any variants in the coding region of CYP11B1 that could explain hypertension and/or an elevated aldosterone to renin ratio; however, the study identifies the importance of these affected residues to enzyme function. PMID: 17121536

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HGNC: 2591

OMIM: 103900

KEGG: hsa:1584

STRING: 9606.ENSP00000292427

UniGene: Hs.184927