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Gene

CYP17A1

cytochrome P450 family 17 subfamily A member 1

Summary

Cytogenetic location
10q24.32
Coordinates
Chromosome 10: 102,830,531–102,837,413 (GRCh38)
Exons
8 exons across 6.9 kb
Protein
508 amino acids
Inheritance
Autosomal recessive
Also known as
P450C17, CPT7, S17AH
Previous symbols
CYP17
MANE Select transcript
ENST00000369887.4NM_000102.4
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 report 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.

      • 2 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

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 CYP17A1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 10, with a bracket where CYP17A1 sits. CYP17A1 and 21 genes near it on chromosome 10, from 102,333,972 to 103,333,971.Chromosome 1010q24.32p15.3p15.2p15.1p14p13p12.33p12.32p12.31p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.31q23.32q23.33q24.1q24.2q24.31q24.32q24.33q25.1q25.2q25.3q26.11q26.12q26.13q26.2q26.3102.4 Mb102.6 Mb102.8 Mb103 Mb103.2 MbGBF1: 102,245,371–102,382,899, forward strandGBF1NFKB2: 102,394,110–102,402,529, forward strandPSD: 102,402,614–102,421,539, reverse strandPSDFBXL15: 102,408,835–102,423,142, forward strandFBXL15CUEDC2: 102,423,239–102,432,718, reverse strandCUEDC2C10orf95: 102,449,619–102,451,548, reverse strandC10orf95SLC68A1: 102,461,363–102,477,046, forward strandSLC68A1ACTR1A: 102,461,881–102,502,744, reverse strandACTR1ASUFU: 102,503,952–102,633,535, forward strandSUFUTRIM8: 102,642,394–102,662,789, forward strandTRIM8ARL3: 102,673,731–102,714,527, reverse strandARL3SFXN2: 102,714,476–102,743,492, forward strandSFXN2WBP1L: 102,743,923–102,834,613, forward strandWBP1LCYP17A1: 102,830,531–102,837,413, reverse strandCYP17A1BORCS7: 102,854,224–102,864,979, forward strandBORCS7BORCS7-ASMT: 102,854,272–102,901,899, forward strandBORCS7-ASMTAS3MT: 102,869,296–102,901,911, forward strandAS3MTCNNM2: 102,918,123–103,090,222, forward strandCNNM2NT5C2: 103,086,478–103,277,622, reverse strandNT5C2RPEL1: 103,245,887–103,248,016, forward strandRPEL1INA: 103,277,082–103,290,351, forward strandINAPCGF6: 103,302,796–103,351,150, reverse strandPCGF6Diagram of CYP17A1: 8 exons on the reverse strand of chromosome 10Exon 8: 20 known disease-causing sitesExon 7: 8 known disease-causing sitesExon 6: 17 known disease-causing sitesExon 5: 9 known disease-causing sitesExon 4: 5 known disease-causing sitesExon 3: 8 known disease-causing sitesExon 2: 10 known disease-causing sitesExon 1: 10 known disease-causing sitesExon 8: 102,830,531–102,830,985, 455 basesExon 7: 102,831,508–102,831,611, 104 basesExon 6: 102,832,511–102,832,680, 170 basesExon 5: 102,832,993–102,833,208, 216 basesExon 4: 102,834,036–102,834,122, 87 basesExon 3: 102,834,785–102,835,014, 230 basesExon 2: 102,835,254–102,835,392, 139 basesExon 1: 102,837,065–102,837,413, 349 bases876543215′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 1.8 kb of the gene's 6.9 kb; 1,527 of those bases code for the protein.

How a genome test reads CYP17A1

97

positions in CYP17A1 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 6.9 kb of CYP17A1, introns included, not only the 1.8 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.). CYP17A1 gene: cytochrome P450 family 17 subfamily A member 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/cyp17a1

Vancouver

Dante Labs. CYP17A1 gene: cytochrome P450 family 17 subfamily A member 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/cyp17a1

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