Variants
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CYP17A1 Gene

cytochrome P450 family 17 subfamily A member 1

ALIAS SYMBOLS

  • P450C17

  • CPT7

  • S17AH

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Description

The CYP17A1 gene provides instructions for making a member of the cytochrome P450 enzyme family. Like other cytochrome P450 enzymes, CYP17A1 is involved in the formation (synthesis) of steroid hormones. This group of hormones includes sex hormones such as testosterone and estrogen, which are needed for normal sexual development and reproduction; mineralocorticoids, which help regulate the body's salt and water balance; and glucocorticoids, which are involved in maintaining blood sugar levels and regulating the body's response to stress.

Steroid hormones are synthesized through a series of chemical reactions. The CYP17A1 enzyme performs two important reactions in this process. The enzyme has 17 alpha(α)-hydroxylase activity, converting pregnenalone to 17-hydroxypregnenolone and progesterone to 17-hydroxyprogesterone. These hormone precursors are further processed to produce glucocorticoids and sex hormones. CYP17A1 also has 17,20-lyase activity, which converts 17-hydroxypregnenolone to dehydroepiandrosterone (DHEA). This reaction is integral to the production of sex hormones.

CHROMOSOME

10


LOCATION

q24.32


LOCUS TYPE

gene with protein product

VARIANTS

221

SEE THE VARIANTS →

Phenotypes

External Links

  • HGNC

    HGNC:2593

  • NCBI

    1586

  • OMIM

    609300

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