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A165D
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naturally occuring mutation in CYP11B1, inactive or almost inactive mutant
A1859G
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naturally occuring polymorphisms at positions 1889 and 1859 in hypertensive patients, overview
A1889G
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naturally occuring polymorphisms at positions 1889 and 1859 in hypertensive patients, overview
G314R/Q43R/V386A
naturally occuring mutant isolated from a patient with adrenal hyperplasia, gene structure, overview, CYP11B1 deficiency is caused by compound heterozygosity for mutation G314R of one CYP11B1 allele, and a chimeric CYP11B2/CYP11B1 in the other allele, the PSV11 beta2-beta1 chimera dioes not have 18-hydroxylase/oxidase activity, but shows 11beta-hydroxylase activity
K254_A259del
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naturally occuring mutation in CYP11B1, inactive or almost inactive mutant
L489S
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naturally occuring mutation from homozygous patients, non-classical congenital adrenal hyperplasia clinical phenotype, that cosegregates, with early pubic hair development and infertility, genotyping and phenotyping of a Turkish family
M88I
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naturally occuring mutation in CYP11B1, the mutant shows 40% of wild-type activity
P159L
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naturally occuring mutation in CYP11B1, the mutant shows 25% of wild-type activity
R366C
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naturally occuring mutation in CYP11B1, the mutant shows 23% of wild-type activity
R383Q
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naturally occuring mutation in CYP11B1, the mutant shows highly reduced activity and is severely involved in CYP11B1 deficiency and congenital adrenal hyperplasia
R448H
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isolation and analysis of the narurally occuring mutation in gene CYP11B1 and mutation frequency in congenital adrenal hyperplasia in Moroccan Jews, phenotype, overview
R448H/R448C
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isolation and analysis of the narurally occuring mutation in gene CYP11B1 and mutation frequency in congenital adrenal hyperplasia in Moroccan Jews, phenotype, overview
T401A
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naturally occuring mutation in CYP11B1, the mutant shows 37% of wild-type activity
V386A
the combination of the V386A mutation with the variant CYP11B2 173Arg only slightly reduces the 18-hydroxylase and 18-oxidase activity, whereas the V386A mutation with the CYP11B2 173Lys variant almost abolishes the 18-hydroxylation and 18-oxidation. In both cases the 11-hydroxylase activity is not affected
W116G
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naturally occuring mutation in CYP11B1, inactive or almost inactive mutant
G59S
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mutation in CYP11B3, 5-6fold reduction of activity
L299P
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naturally occuring missense mutations involved in development of congenital adrenal hyperplasia due to enzyme deficiency, the L299P mutation causes a change in the position of the I helix relative to the heme group, multisteroid analysis and phenotype, overview, the mutant enzymes shows 1.2% of wild-type activity with 11-deoxycortisol
L299P
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naturally occuring mutation in a consanguineous Turkish family, phenotype with complete external virilization, borderline elevated blood pressure, and genital alterations, overview
R448C
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isolation and analysis of the narurally occuring mutation in gene CYP11B1 and mutation frequency in congenital adrenal hyperplasia in Moroccan Jews, the mutation is restricted to one family, phenotype, overview
R448C
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naturally occuring mutation, cytogenetic analysis and phenotyping, overview
W116C
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naturally occuring missense mutations involved in development of congenital adrenal hyperplasia due to enzyme deficiency, the W116C mutation influences the conformational change of the 11-hydroxylase protein necessary for substrate access and product release, multisteroid analysis and phenotype, overview, the mutant enzymes shows 2.9% of wild-type activity with 11-deoxycortisol
W116C
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a naturally occuring mutation leading to enzyme deficiency, which causes decreased cortisol secretion, elevated plasma levels of ACTH, and accumulation of steroid precursors. These are shunted into the androgen synthesis pathway, leading to hyperandrogenism. Accumulation of 11-deoxycorticosterone and its metabolites causes hypertension in about two thirds of patients. Phenotypical expression of classic 11OHD leads to virilization of external genitalia in newborn females and precocious pseudopuberty combined with rapid somatic growth and bone age acceleration, due to reactive androgen overproduction in both sexes,overview
additional information
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CYP11B2-CYP11B1 haplotypes associate with decreased 11beta-hydroxylase activity, CwtCG and TconvGTA haplotype genotyping, phenotypes, overview
additional information
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genetic variation at the locus encompassing 11-beta hydroxylase and aldosterone synthase accounts for heritability in cortisol precursor 11-deoxycortisol urinary metabolite excretion, genotyping, linkages of polymorphisms in CYP11B1, at exon1, intron 3, and exon 8, and CYP11B2, phenotypes, overview
additional information
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genotyping of 573 members of 105 British Caucasian families, geno- and phenotype, nine diallelic polymorphisms, overview, association between aldosterone production and variation in gene CYP11B1, overview
additional information
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isolation of a narually occuring in-frame 3-bp deletion, DELTAF438, in the CYP11B gene, that is involved in development of congenital adrenal hyperplasia due to enzyme deficiency, the DELTAF438 mutation results in a steric disarrangement of the heme group relative to the enzyme, the mutant is inactive, phenotype, overview, molecular modeling of insertional and deletion mutations
additional information
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the -344 T/C promoter polymorphism of CYP11B2 is involved in diabetic nephropathy, analysis of allele and genotype distributions and frequencies of the CYP11B2 -344T/C polymorphism
additional information
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11beta-hydroxylase deficiency caused by mutations inthe CYP11B1 gene can cause congenital adrenal hyperplasia, identification of mutations involved, biochemical androgen status of a mutant female during pregnancy and after delivery, overview
additional information
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11beta-hydroxylase deficiency combined with 21-hydroxylase deficiency leads to development of ambiguous genitalia and salt-loss with increased steroid, e.g. 11-deoxycortisol, contents, mutation in 11beta-hydroxylase partially causes congenital adrenal hyperplasia, phenotype, overview
additional information
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congenital adrenal hyperplasia due to steroid 11beta-hydroxylase deficiency is a genetic disorder of steroidogenesis, transmitted as an autosomal recessive trait. It is associated with low renin hypertension, hypokalemia, hyperandrogenemia and genital ambiguity in affected females, phenotype including female pseudohermaphroditism and partially with hypertension, diagnostic steroid pattern of 11beta-hydroxylase deficiency, overview
additional information
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determination and analysis of naturally occuring mutant enzyme variants and their phenotypes, construction of chimeric enzymes with 21-hydroxylase, gene CYP11B2, detailed overview
additional information
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enzyme deficiency leads to hypokalemia and further, when under-treated, to rhabdomyolysis, phenotype, overview
additional information
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construction of a chimeric mutant from 11beta-hydroxylase CYP11B1 and aldosterone synthase CYP11B2 genes analogously to the naturally occuring mutant resulting from an unequal crossover break point
additional information
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generation of different enzyme-DHFR fusion constructs, where the full-length DHFR is fused to the N-terminally varying length of enzyme, analysis of subcellular localization after recombinant expression, overview. The rate of enzyme translocation is independent of the targeting sequence
additional information
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all enzymes with aldosterone synthesis activity have a glycine residue at position 288, in nonaldosterone synthesising P45011beta it is valine or serine