CYP11B1
Cytochrome P450 Family 11 Subfamily B Member 1
Gene Information Card
| Symbol | CYP11B1 |
|---|---|
| Full Name | Cytochrome P450 Family 11 Subfamily B Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q24.3 |
| NCBI Gene ID | 1584 ncbi.nlm.nih.gov/gene/1584 |
| Ensembl ID | ENSG00000160882 |
| UniProt ID | P15538 |
| OMIM ID | 610613 |
| HGNC ID | 2591 |
| Aliases | CPN1, CYP11B, P450C11, FHI, CYPXIB1 |
Description
CYP11B1 encodes the enzyme 11-beta-hydroxylase, a mitochondrial cytochrome P450 that catalyzes the conversion of 11-deoxycortisol to cortisol and deoxycorticosterone to corticosterone in the adrenal cortex. It is essential for glucocorticoid and mineralocorticoid biosynthesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | Loss-of-function mutations in CYP11B1 impair cortisol synthesis, leading to ACTH-driven adrenal hyperplasia and androgen excess. | ClinVar, OMIM #202010 |
| Corticosterone methyloxidase deficiency type II | Mutations affecting 11-beta-hydroxylase activity disrupt aldosterone synthesis, causing salt-wasting. | OMIM #610613 |
| Adrenal carcinoma | Somatic alterations in CYP11B1 may contribute to steroidogenic dysregulation in adrenal tumors. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adrenal gland | 78.2 | High |
| Adrenal cortex | 85.0 | High |
| Testis | 0.3 | Not detected |
| Ovary | 0.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NCI-H295R (adrenocortical) | 82.5 | Adrenal carcinoma cell line |
| SW13 (adrenocortical) | 0.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.937C>T (p.Arg313Trp) | Missense | 1-5% in CAH | Loss of enzyme activity |
| c.952C>T (p.Arg318X) | Nonsense | <1% | Premature truncation, loss of function |
| c.1238G>A (p.Arg413His) | Missense | <1% | Reduced 11-beta-hydroxylase activity |
Mutation functional classification
Loss of Function (LOF)
Most CYP11B1 mutations cause loss of 11-beta-hydroxylase activity, leading to 11-beta-hydroxylase deficiency.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • monooxygenase activity (GO:0004497) | • iron ion binding (GO:0005506) |
| • heme binding (GO:0020037) | • C21-steroid hormone biosynthetic process (GO:0006700) |
| • mitochondrion (GO:0005739) |
Pathways
• Steroid hormone biosynthesis (KEGG hsa00140)
• Metabolic pathways (KEGG hsa01100)
Protein Summary
CYP11B1 is a 503-amino acid mitochondrial cytochrome P450 enzyme (UniProt P15538) that catalyzes the final step of cortisol synthesis. It is expressed primarily in the adrenal zona fasciculata and requires adrenodoxin and adrenodoxin reductase for electron transfer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CYP11B1 Knockout HEK293 Cell Line | EDJ-KQ4410 | Human | 1584 | Details Get a Quote |
| CYP11B1 Knockout HeLa Cell Line | EDJ-KQ53058 | Human | 1584 | Details Get a Quote |
| CYP11B1 Knockout A-549 Cell Line | EDJ-KQ61524 | Human | 1584 | Details Get a Quote |
| CYP11B1 Knockout HCT 116 Cell Line | EDJ-KQ70016 | Human | 1584 | Details Get a Quote |
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