Cyp17a1
Cyp17a1 (pronounced as "sip-seventeen-a-one") is a gene that encodes the enzyme Cytochrome P450 17A1. This enzyme is involved in the biosynthesis of steroids, specifically the production of glucocorticoids, mineralocorticoids, and sex steroids.
Etymology
The term "Cyp17a1" is derived from the larger family of genes known as Cytochrome P450 genes. The "Cyp" stands for "Cytochrome P450", "17" refers to the family number, "a" indicates the subfamily, and "1" is the gene number within the subfamily.
Function
The Cyp17a1 gene is responsible for producing an enzyme that plays a crucial role in the production of corticosteroids and sex steroids. This enzyme, known as Cytochrome P450 17A1, is involved in the conversion of pregnenolone and progesterone to their 17-alpha-hydroxy derivatives, which are precursors for the formation of glucocorticoids, mineralocorticoids, and sex steroids.
Clinical Significance
Mutations in the Cyp17a1 gene can lead to disorders of sex development (DSDs), such as 17-alpha-hydroxylase/17,20-lyase deficiency. This condition is characterized by abnormal sexual development and can result in individuals having ambiguous genitalia or developing physical characteristics that do not match their genetic sex.
Related Terms
- Cytochrome P450: A large family of enzymes involved in drug metabolism and synthesis of cholesterol, steroids, and other lipids.
- Steroids: A group of hormones that includes glucocorticoids, mineralocorticoids, and sex steroids.
- Corticosteroids: A class of steroids that includes glucocorticoids and mineralocorticoids.
- Sex Steroids: A class of steroids that includes androgens, estrogens, and progestogens.
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