Identity
HGNC
LOCATION
8q24.3
LOCUSID
ALIAS
CPN1,CYP11B,FHI,P450C11
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 1584
MIM: 610613
HGNC: 2591
Ensembl: ENSG00000160882
Variants:
dbSNP: 1584
ClinVar: 1584
TCGA: ENSG00000160882
COSMIC: CYP11B1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000160882 | ENST00000292427 | P15538 |
| ENSG00000160882 | ENST00000377675 | Q4VAR0 |
| ENSG00000160882 | ENST00000517471 | P15538 |
| ENSG00000160882 | ENST00000519285 | H0YBR4 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37486441 | 2024 | Clinical and molecular characterization of 10 Chinese children with congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency. | 0 |
| 38285409 | 2024 | Identification and functional characterization of compound heterozygous CYP11B1 gene mutations. | 0 |
| 38858218 | 2024 | [Analysis of a family with 11β-hydroxylase deficiency due to a mutation in the CYP11B1 gene]. | 0 |
| 37486441 | 2024 | Clinical and molecular characterization of 10 Chinese children with congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency. | 0 |
| 38285409 | 2024 | Identification and functional characterization of compound heterozygous CYP11B1 gene mutations. | 0 |
| 38858218 | 2024 | [Analysis of a family with 11β-hydroxylase deficiency due to a mutation in the CYP11B1 gene]. | 0 |
| 36929050 | 2023 | Molecular analysis of 12 Chinese patients with 11β-hydroxylase deficiency and in vitro functional study of 20 CYP11B1 missense variants. | 0 |
| 36929050 | 2023 | Molecular analysis of 12 Chinese patients with 11β-hydroxylase deficiency and in vitro functional study of 20 CYP11B1 missense variants. | 0 |
| 34743356 | 2022 | Expression of CYP11B1 and CYP11B2 in adrenal adenoma correlates with clinical characteristics of primary aldosteronism. | 6 |
| 34821221 | 2022 | Aldosterone-producing nodules and CYP11B1 signaling correlate in primary aldosteronism. | 4 |
| 35012455 | 2022 | GRAde: a long-read sequencing approach to efficiently identifying the CYP11B1/CYP11B2 chimeric form in patients with glucocorticoid-remediable aldosteronism. | 0 |
| 35831903 | 2022 | Genetic variants in CYP11B1 influence the susceptibility to coronary heart disease. | 3 |
| 34743356 | 2022 | Expression of CYP11B1 and CYP11B2 in adrenal adenoma correlates with clinical characteristics of primary aldosteronism. | 6 |
| 34821221 | 2022 | Aldosterone-producing nodules and CYP11B1 signaling correlate in primary aldosteronism. | 4 |
| 35012455 | 2022 | GRAde: a long-read sequencing approach to efficiently identifying the CYP11B1/CYP11B2 chimeric form in patients with glucocorticoid-remediable aldosteronism. | 0 |
Citation
Dessen P
CYP11B1 (cytochrome P450 family 11 subfamily B member 1)
Atlas Genet Cytogenet Oncol Haematol. 2012-11-01
Online version: http://atlasgeneticsoncology.org/gene/52986/cyp11b1
