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Gene

CYP11B1

cytochrome P450 family 11 subfamily B member 1

Summary

Cytogenetic location
8q24.3
Coordinates
Chromosome 8: 142,872,357–142,879,825 (GRCh38)
Exons
9 exons across 7.5 kb
Protein
503 amino acids
Inheritance
Autosomal dominant Autosomal recessive
Also known as
P450C11, FHI, CPN1
Previous symbols
CYP11B
MANE Select transcript
ENST00000292427.10NM_000497.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Congenital Adrenal Hyperplasia

    • Autosomal recessive

      Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgyny manifestations, depending of the type and the severity of the disease.

      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Glucocorticoid replacement (hydrocortisone in children, prednisone/dexamethasone in adults); mineralocorticoid replacement for salt-wasting (fludrocortisone); adrenalectomy for severe medically refractory hyperandrogenism; stress dosing protocols

  • Monogenic Hypertension & Mineralocorticoid Disorders

    • Familial HyperaldosteronismAutosomal dominant

      A group of conditions, including glucocorticoid-remediable aldosteronism (CYP11B1/CYP11B2) and forms caused by CLCN2, KCNJ5 or CACNA1H, in which the adrenal glands make too much aldosterone, causing high blood pressure.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Knowing about it guides treatment (dexamethasone for glucocorticoid-remediable aldosteronism, aldosterone-blocking drugs more generally) and supports screening of relatives.

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How CYP11B1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 8, with a bracket where CYP11B1 sits. CYP11B1 and 26 genes near it on chromosome 8, from 142,376,091 to 143,376,090.Chromosome 88q24.3p23.3p23.2p23.1p22p21.3p21.2p21.1p12p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.3q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.3142.4 Mb142.6 Mb142.8 Mb143 Mb143.2 MbTSNARE1: 142,212,077–142,403,270, reverse strandTSNARE1ADGRB1: 142,449,430–142,545,009, forward strandADGRB1ARC: 142,611,049–142,614,479, reverse strandARCJRK: 142,657,460–142,681,968, reverse strandJRKPSCA: 142,670,308–142,682,725, forward strandPSCALY6K: 142,699,988–142,705,190, forward strandLY6KTHEM6: 142,727,176–142,736,938, forward strandSLURP1: 142,740,941–142,742,414, reverse strandLYPD2: 142,750,150–142,753,006, reverse strandLYNX1-SLURP2: 142,764,334–142,778,224, reverse strandLYNX1-SLURP2SLURP2: 142,764,334–142,769,828, reverse strandSLURP2LYNX1: 142,771,197–142,777,889, reverse strandLYNX1LY6D: 142,784,881–142,786,546, reverse strandLY6DGML: 142,834,171–142,916,506, forward strandGMLCYP11B1: 142,872,357–142,879,825, reverse strandCYP11B1CYP11B2: 142,910,424–142,917,943, reverse strandCYP11B2LY6E: 143,012,722–143,023,835, forward strandLY6ELY6S: 143,040,839–143,048,357, reverse strandLY6SLY6L: 143,080,299–143,083,486, forward strandLY6LLY6H: 143,157,914–143,160,711, reverse strandLY6HGPIHBP1: 143,213,019–143,217,172, forward strandGPIHBP1ZFP41: 143,245,996–143,262,705, forward strandZFP41: 143,247,110–143,276,403, forward strandGLI4: 143,263,193–143,276,937, forward strandGLI4ZNF696: 143,289,676–143,299,952, forward strandZNF696TOP1MT: 143,301,453–143,359,979, reverse strandTOP1MTRHPN1: 143,368,810–143,384,221, forward strandRHPN1Diagram of CYP11B1: 9 exons on the reverse strand of chromosome 8Exon 9: 2 known disease-causing sitesExon 8: 13 known disease-causing sitesExon 7: 10 known disease-causing sitesExon 6: 12 known disease-causing sitesExon 5: 24 known disease-causing sitesExon 4: 24 known disease-causing sitesExon 3: 18 known disease-causing sitesExon 2: 9 known disease-causing sitesExon 1: 14 known disease-causing sitesExon 9: 142,872,357–142,874,486, 2,130 basesExon 8: 142,874,957–142,875,154, 198 basesExon 7: 142,875,234–142,875,312, 79 basesExon 6: 142,875,712–142,875,878, 167 basesExon 5: 142,876,241–142,876,395, 155 basesExon 4: 142,876,682–142,876,885, 204 basesExon 3: 142,877,023–142,877,222, 200 basesExon 2: 142,879,032–142,879,187, 156 basesExon 1: 142,879,575–142,879,825, 251 bases9876543215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 3.5 kb of the gene's 7.5 kb; 1,512 of those bases code for the protein.

How a genome test reads CYP11B1

148

positions in CYP11B1 where ClinVar classes a change as pathogenic or likely pathogenic

148 of them (100%) fall in regions short reads find hard.

  • Low mappability (67 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
  • Segmental duplications (148 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.

A whole genome covers all 7.5 kb of CYP11B1, introns included, not only the 3.5 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). CYP11B1 gene: cytochrome P450 family 11 subfamily B member 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/cyp11b1

Vancouver

Dante Labs. CYP11B1 gene: cytochrome P450 family 11 subfamily B member 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/cyp11b1

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