Gene
CYP11A1
cytochrome P450 family 11 subfamily A member 1
- HGNC 2590(opens in a new tab)
- Ensembl gene ENSG00000140459(opens in a new tab)
- NCBI Gene 1583(opens in a new tab)
Summary
- Cytogenetic location
- 15q24.1
- Coordinates
- Chromosome 15: 74,337,762–74,367,646 (GRCh38)
- Exons
- 9 exons across 29.9 kb
- Protein
- 521 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- P450SCC
- Previous symbols
- CYP11A
- MANE Select transcript
- ENST00000268053.11NM_000781.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated reports relevant to this gene
46,XY Differences of Sex Development and Gonadal Dysgenesis
- 46,XY differences of sex development
Conditions in people with XY chromosomes in which gonadal or genital development is atypical, caused by variants in genes such as SRD5A2, HSD17B3, NR5A1, MAP3K1, DHH, WT1, CYP11A1 and LHCGR.
- 2 GenCC submitters rate it definitive or strong
What knowing changes
Diagnosis informs hormone treatment, fertility counselling and, where dysgenetic gonads carry Y material, assessment of gonadal tumour risk.
Congenital Adrenal Hyperplasia
- CYP11A1 deficiencyAutosomal recessive
Congenital adrenal insufficiency, sometimes with differences of sex development in 46,XY individuals, caused by CYP11A1 variants; it can resemble lipoid congenital adrenal hyperplasia.
- 2 GenCC submitters rate it definitive or strong
Inheritance
- 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 CYP11A1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
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 1.8 kb of the gene's 29.9 kb; 1,566 of those bases code for the protein.
How a genome test reads CYP11A1
46
positions in CYP11A1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 29.9 kb of CYP11A1, introns included, not only the 1.8 kb of exons.
Traits linked to CYP11A1
The Human Phenotype Ontology lists these as features of the rare conditions CYP11A1 can cause. Each trait's page lists the other genes linked to it.
Laboratory abnormality
- Abnormal urine potassium concentration
- Abnormality of cholesterol metabolism
- Acidosis
- Dehydration
- Hypernatriuria
- Increased circulating potassium concentration
- Loss of salt in urine
- Low blood sodium levels
Show 1 more trait
External links
Gene records
Transcript
Protein
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
Dante Labs. (n.d.). CYP11A1 gene: cytochrome P450 family 11 subfamily A member 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/cyp11a1
Dante Labs. CYP11A1 gene: cytochrome P450 family 11 subfamily A member 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/cyp11a1
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