Cytochrome p450 family 19 subfamily a member 1

Cytochrome P450 Family 19 Subfamily A Member 1 (CYP19A1) is a gene that encodes the enzyme aromatase. This enzyme is a member of the cytochrome P450 superfamily of enzymes, which are monooxygenases that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids, and other lipids.

Function

The CYP19A1 gene is responsible for the biosynthesis of estrogens, the primary female sex hormones. It does this by converting androgens, the primary male sex hormones, into estrogens. This process is known as aromatization and is a crucial component of the endocrine system.

Structure

The CYP19A1 gene is located on the long (q) arm of chromosome 15 at position 21.2. The gene spans more than 123,000 base pairs and consists of nine coding exons.

Clinical significance

Mutations in the CYP19A1 gene can lead to aromatase deficiency, a rare condition characterized by an imbalance of sex hormones in the body. This can result in a variety of symptoms, including ambiguous genitalia, delayed puberty, and infertility.

See also

• Cytochrome P450
• Aromatase
• Estrogen
• Androgen
• Endocrine system