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CYP17A1

Chr 10q24.32

cytochrome P450 family 17 subfamily A member 1

Aliases:
P450C17, CPT7, S17AH
MANE:
ENST00000369887.4
OMIM: 609300 ↗NCBI: 1586 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Differences in sex development

    BIALLELIC, autosomal or pseudoautosomal

  • Extreme early-onset hypertension

    BIALLELIC, autosomal or pseudoautosomal

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

  • Primary ovarian insufficiency

    BIALLELIC, autosomal or pseudoautosomal

  • Congenital adrenal hypoplasia

Disease associations (Open Targets)

  • congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency

    0.80

  • 46,XY disorder of sex development due to isolated 17,20 lyase deficiency

    0.67

  • congenital adrenal hyperplasia

    0.64

  • prostate cancer

    0.61

  • adrenal gland disorder

    0.60

  • 17,20-lyase deficiency, isolated

    0.57

  • 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete

    0.53

  • 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial

    0.52

  • prostate neoplasm

    0.50

  • Cushing syndrome

    0.49

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Steroid 17-alpha-hydroxylase/17,20 lyase

A cytochrome P450 monooxygenase involved in corticoid and androgen biosynthesis (PubMed:22266943, PubMed:25301938, PubMed:27339894, PubMed:9452426). Catalyzes 17-alpha hydroxylation of C21 steroids, which is common for both pathways. A second oxidative step, required only for androgen synthesis, involves an acyl-carbon cleavage. The 17-alpha hydroxy intermediates, as part of adrenal glucocorticoids biosynthesis pathway, are precursors of cortisol (Probable) (PubMed:25301938, PubMed:9452426). Hydroxylates steroid hormones, pregnenolone and progesterone to form 17-alpha hydroxy metabolites, followed by the cleavage of the C17-C20 bond to form C19 steroids, dehydroepiandrosterone (DHEA) and androstenedione (PubMed:22266943, PubMed:25301938, PubMed:27339894, PubMed:36640554, PubMed:9452426). Has 16-alpha hydroxylase activity. Catalyzes 16-alpha hydroxylation of 17-alpha hydroxy pregnenolone, followed by the cleavage of the C17-C20 bond to form 16-alpha-hydroxy DHEA (PubMed:36640554). Also 16-alpha hydroxylates androgens, relevant for estriol synthesis (PubMed:25301938, PubMed:27339894). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:22266943, PubMed:25301938, PubMed:27339894, PubMed:9452426)

Diseases associated with CYP17A1

Curated MONDO disease pages that list CYP17A1 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.