CYP19A1 (Aromatase) Gene: Structure, Function, and Clinical Significance
A comprehensive biomedical overview of the CYP19A1 gene, encoding aromatase, its role in estrogen biosynthesis, associated diseases, expression patterns, and mutations.
Gene Information Card
| Symbol | CYP19A1 |
|---|---|
| Full Name | Cytochrome P450 family 19 subfamily A member 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q21.2 |
| NCBI Gene ID | 1588 ncbi.nlm.nih.gov/gene/1588 |
| Ensembl ID | ENSG00000137869 |
| UniProt ID | P11511 |
| OMIM ID | 107910 |
| HGNC ID | 2594 |
| Aliases | ARO1, CYP19, P-450AROM |
Description
The CYP19A1 gene encodes aromatase, a cytochrome P450 enzyme that catalyzes the rate-limiting step in the conversion of androgens (androstenedione, testosterone) to estrogens (estrone, estradiol). This enzyme is expressed in various tissues including the ovaries, placenta, adipose tissue, bone, and brain, where it plays a critical role in estrogen biosynthesis. Mutations in CYP19A1 can lead to aromatase deficiency or excess, affecting sexual development, bone density, and fertility. Additionally, aromatase is a key therapeutic target in estrogen receptor-positive breast cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Aromatase deficiency | Loss-of-function mutations in CYP19A1 result in impaired estrogen synthesis, leading to virilization of females, delayed puberty, and osteoporosis. | ClinVar, OMIM |
| Aromatase excess syndrome | Gain-of-function mutations or overexpression of CYP19A1 cause excessive estrogen production, leading to gynecomastia in males and precocious puberty in females. | OMIM, ClinVar |
| Breast cancer | Aromatase expression in adipose tissue and tumor stroma contributes to local estrogen production, promoting tumor growth. Aromatase inhibitors are used in treatment. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Ovary | High | High expression in granulosa cells |
| Placenta | High | High expression in syncytiotrophoblasts |
| Adipose tissue | Moderate | Expression in subcutaneous and visceral fat |
| Bone | Low | Expression in osteoblasts |
| Brain | Low | Expression in hypothalamus and amygdala |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF-7 (breast cancer) | Moderate | Estrogen receptor-positive cell line |
| JEG-3 (placental) | High | Choriocarcinoma cell line |
| SK-BR-3 (breast cancer) | Low | HER2-positive cell line |
| HepG2 (liver) | Low | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375Cys) | Missense | Rare | Loss of function, associated with aromatase deficiency |
| c.628G>A (p.Gly210Arg) | Missense | Rare | Loss of function, associated with aromatase deficiency |
| c.1303C>T (p.Arg435Cys) | Missense | Rare | Loss of function, associated with aromatase deficiency |
| c.1123C>T (p.Arg375Cys) | Missense | Rare | Loss of function, associated with aromatase deficiency |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce or abolish aromatase activity, leading to estrogen deficiency and symptoms such as virilization and osteoporosis.
Gain of Function (GOF)
Mutations that increase aromatase activity or expression, leading to estrogen excess and conditions like gynecomastia and precocious puberty.
Dominant Negative (DN)
Not commonly reported for CYP19A1; most mutations are recessive or haploinsufficient.
View complete mutation data：
Gene Ontology (GO)
| • aromatase activity | • iron ion binding |
| • oxidoreductase activity | • steroid hydroxylase activity |
| • estrogen biosynthetic process | • response to estradiol |
Pathways
• Steroid hormone biosynthesis
• Estrogen signaling pathway
• Metabolic pathways
Protein Summary
Aromatase (CYP19A1) is a microsomal cytochrome P450 enzyme that catalyzes the aromatization of androgens to estrogens. It is a key regulator of estrogen levels in the body, with tissue-specific expression controlled by multiple promoters. The protein is a target for aromatase inhibitors used in breast cancer therapy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CYP19A1 Knockout HEK293 Cell Line | EDJ-KQ17811 | Human | 1588 | Details Get a Quote |
| CYP19A1 Knockout HeLa Cell Line | EDJ-KQ53061 | Human | 1588 | Details Get a Quote |
| CYP19A1 Knockout A-549 Cell Line | EDJ-KQ61527 | Human | 1588 | Details Get a Quote |
| CYP19A1 Knockout HCT 116 Cell Line | EDJ-KQ70019 | Human | 1588 | Details Get a Quote |
| CYP19A1 Overexpression MCF-7 Stable Cell Line | EDJ-GQ114 | Human | 1588 | Details Get a Quote |
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