CYP19A1
CYP19A1 (pronounced as "S-I-P-19-A-1") is a gene that encodes the enzyme aromatase.
Etymology
The term "CYP19A1" is derived from the Cytochrome P450 superfamily of enzymes, specifically the 19A1 isoform. The "CYP" stands for "Cytochrome P450", while "19A1" refers to the specific isoform of this enzyme.
Function
The CYP19A1 gene is responsible for the production of Aromatase, an enzyme that plays a crucial role in the biosynthesis of estrogens, a group of Steroid hormones. Aromatase is the only enzyme in vertebrates known to catalyze the biosynthesis of estrogens from androgens.
Clinical Significance
Mutations in the CYP19A1 gene can lead to aromatase deficiency, a rare condition that affects estrogen production. This can result in a variety of symptoms, including ambiguous genitalia, delayed puberty, and in some cases, maternal virilization during pregnancy.
Related Terms
- Cytochrome P450: A large and diverse group of enzymes that catalyze the oxidation of organic substances.
- Aromatase: An enzyme that is part of the Cytochrome P450 superfamily and is encoded by the CYP19A1 gene.
- Steroid hormones: A type of hormone that is derived from cholesterol and includes sex hormones like estrogens and androgens.
- Aromatase deficiency: A condition caused by mutations in the CYP19A1 gene that affects the body's ability to produce estrogen.
See Also
- Cytochrome P450, family 19, subfamily A, polypeptide 1
- Aromatase excess syndrome
- Aromatase inhibitor
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