CYP11B1 Chromosome 8
Cytochrome P450 family 11 subfamily B member 1
Upload your DNA to see your personal genotypes for variants in CYP11B1.
What This Gene Does
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]
Gene Info
Gene Group
Cytochrome P450 family 11
Locus Type
gene with protein product
Location
8q24.3
Ensembl
ENSG00000160882
Associated Conditions (6)
Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Congenital adrenal hyperplasia
CYP11B1-related disorder
Inborn genetic diseases
Differences in sex development
Key Variants
RS1208266252
Conflicting classifications of pathogenicity
Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism, Deficiency of steroid 11-beta-monooxygenase
Health Risk
RS1255308813
Conflicting classifications of pathogenicity
Glucocorticoid-remediable aldosteronism, Glucocorticoid-remediable aldosteronism
Health Risk
RS1322560606
Conflicting classifications of pathogenicity
Health Risk
RS141368413
Conflicting classifications of pathogenicity
Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism, Deficiency of steroid 11-beta-monooxygenase
Health Risk
RS142163070
Conflicting classifications of pathogenicity
Health Risk
RS1421641874
Conflicting classifications of pathogenicity
Glucocorticoid-remediable aldosteronism, Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
Health Risk
RS142591816
Conflicting classifications of pathogenicity
Health Risk
RS146105017
Conflicting classifications of pathogenicity
Glucocorticoid-remediable aldosteronism, Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism
Health Risk
RS149520110
Conflicting classifications of pathogenicity
Glucocorticoid-remediable aldosteronism, Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism
Health Risk
RS151335623
Conflicting classifications of pathogenicity
Glucocorticoid-remediable aldosteronism, Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism
Health Risk
RS1586561494
Conflicting classifications of pathogenicity
Health Risk
RS193922542
Conflicting classifications of pathogenicity
Congenital adrenal hyperplasia, Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism
Health Risk
All Variants (190)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS764251434 | Health Risk | Likely pathogenic | Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase |
| RS764598023 | Health Risk | Likely pathogenic | Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism, Deficiency of steroid 11-beta-monooxygenase |
| RS768007725 | Health Risk | Likely pathogenic | — |
| RS775454138 | Health Risk | Likely pathogenic | — |
| RS775946442 | Health Risk | Likely pathogenic | Deficiency of steroid 11-beta-monooxygenase, Congenital adrenal hyperplasia, Deficiency of steroid 11-beta-monooxygenase |
| RS777626314 | Health Risk | Likely pathogenic | Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism, Deficiency of steroid 11-beta-monooxygenase |
| RS778735553 | Health Risk | Likely pathogenic | Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase |
| RS1043525925 | Health Risk | Pathogenic | — |
| RS104894061 | Health Risk | Pathogenic | Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism, Deficiency of steroid 11-beta-monooxygenase |
| RS104894066 | Health Risk | Pathogenic | Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase |
| RS104894067 | Health Risk | Pathogenic | Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase |
| RS104894071 | Health Risk | Pathogenic | Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase |
| RS1214983921 | Health Risk | Pathogenic | Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism, Deficiency of steroid 11-beta-monooxygenase |
| RS1249087390 | Health Risk | Pathogenic | — |
| RS1256580853 | Health Risk | Pathogenic | Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism, CYP11B1-related disorder |
| RS1447069098 | Health Risk | Pathogenic | Congenital adrenal hyperplasia, Glucocorticoid-remediable aldosteronism, Deficiency of steroid 11-beta-monooxygenase |
| RS146124466 | Health Risk | Pathogenic | Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism, Congenital adrenal hyperplasia |
| RS1554652528 | Health Risk | Pathogenic | Deficiency of steroid 11-beta-monooxygenase, CYP11B1-related disorder, Deficiency of steroid 11-beta-monooxygenase |
| RS1554652998 | Health Risk | Pathogenic | Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase |
| RS1554653185 | Health Risk | Pathogenic | Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase |
| RS1554653520 | Health Risk | Pathogenic | Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase |
| RS1554653675 | Health Risk | Pathogenic | Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase |
| RS1554653714 | Health Risk | Pathogenic | Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase |
| RS1563867837 | Health Risk | Pathogenic | Congenital adrenal hyperplasia, Deficiency of steroid 11-beta-monooxygenase, Congenital adrenal hyperplasia |
| RS1563867899 | Health Risk | Pathogenic | — |
| RS1816868757 | Health Risk | Pathogenic | Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase |
| RS1816889095 | Health Risk | Pathogenic | Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase |
| RS1816926704 | Health Risk | Pathogenic | — |
| RS1816943902 | Health Risk | Pathogenic | — |
| RS1816948809 | Health Risk | Pathogenic | — |
| RS1817058474 | Health Risk | Pathogenic | — |
| RS2130266809 | Health Risk | Pathogenic | Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase |
| RS2130273191 | Health Risk | Pathogenic | Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase |
| RS2130274854 | Health Risk | Pathogenic | Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase |
| RS2130275613 | Health Risk | Pathogenic | — |
| RS2130276607 | Health Risk | Pathogenic | — |
| RS2488675314 | Health Risk | Pathogenic | — |
| RS2488675474 | Health Risk | Pathogenic | — |
| RS2488675647 | Health Risk | Pathogenic | — |
| RS2488676574 | Health Risk | Pathogenic | — |
| RS2488677448 | Health Risk | Pathogenic | — |
| RS2488677484 | Health Risk | Pathogenic | — |
| RS2488677579 | Health Risk | Pathogenic | — |
| RS2488678051 | Health Risk | Pathogenic | Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase |
| RS2488681006 | Health Risk | Pathogenic | — |
| RS2488681030 | Health Risk | Pathogenic | Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase |
| RS2488681073 | Health Risk | Pathogenic | Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase |
| RS2488681185 | Health Risk | Pathogenic | — |
| RS2488682060 | Health Risk | Pathogenic | — |
| RS267606755 | Health Risk | Pathogenic | Deficiency of steroid 11-beta-monooxygenase, CYP11B1-related disorder, Glucocorticoid-remediable aldosteronism |