cytochrome P450 family 19 subfamily A member 1
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Diagnostic Grade (Green)
Differences in sex development
BIALLELIC, autosomal or pseudoautosomalPrimary ovarian insufficiency
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BOTH monoallelic and biallelic, autosomal or pseudoautosomalaromatase deficiency
breast cancer
breast carcinoma
aromatase excess syndrome
neoplasm
endometrial cancer
endometrial carcinoma
polycystic ovary syndrome
osteoarthritis
osteoporosis
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Aromatase
A cytochrome P450 monooxygenase that catalyzes the conversion of C19 androgens, androst-4-ene-3,17-dione (androstenedione) and testosterone to the C18 estrogens, estrone and estradiol, respectively (PubMed:27702664, PubMed:2848247). Catalyzes three successive oxidations of C19 androgens: two conventional oxidations at C19 yielding 19-hydroxy and 19-oxo/19-aldehyde derivatives, followed by a third oxidative aromatization step that involves C1-beta hydrogen abstraction combined with cleavage of the C10-C19 bond to yield a phenolic A ring and formic acid (PubMed:20385561). Alternatively, the third oxidative reaction yields a 19-norsteroid and formic acid. Converts dihydrotestosterone to delta1,10-dehydro 19-nordihydrotestosterone and may play a role in homeostasis of this potent androgen (PubMed:22773874). Also displays 2-hydroxylase activity toward estrone (PubMed:22773874). 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:20385561, PubMed:22773874)
Curated MONDO disease pages that list CYP19A1 among their top associated genes.
CYP19A1 · P11511
Mean pLDDT
91.4/ 100
Very high
503 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
