Variants
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HSD3B2 Gene

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2

ALIAS SYMBOLS

  • SDR11E2

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Description

The HSD3B2 gene provides instructions for making the 3-beta-hydroxysteroid dehydrogenase (3β-HSD) enzyme. This enzyme is found in the gonads, which are the ovaries in females and testes in males, and in the adrenal glands, which are located on top of the kidneys. Within these hormone-producing tissues, the 3β-HSD enzyme is necessary for the production of many hormones, including cortisol, aldosterone, androgens, and estrogen. Cortisol has numerous functions such as maintaining energy and blood sugar levels, protecting the body from stress, and suppressing inflammation. Aldosterone is sometimes called the salt-retaining hormone because it regulates the amount of salt retained by the kidney. The retention of salt affects fluid levels and blood pressure. Androgens and estrogen are essential for normal sexual development and reproduction.

CHROMOSOME

1


LOCATION

p12


LOCUS TYPE

gene with protein product

VARIANTS

153

SEE THE VARIANTS →

Phenotypes

External Links

  • HGNC

    HGNC:5218

  • NCBI

    3284

  • OMIM

    613890

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