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Reviewed November 2008

What is the official name of the HSD17B3 gene?

The official name of this gene is “hydroxysteroid (17-beta) dehydrogenase 3.”

HSD17B3 is the gene's official symbol. The HSD17B3 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the HSD17B3 gene?

The HSD17B3 gene provides instructions for making an enzyme called 17-beta hydroxysteroid dehydrogenase 3. This enzyme is active in the male gonads (testes), where it helps to produce the male sex hormone testosterone from a precursor hormone called androstenedione.

Does the HSD17B3 gene share characteristics with other genes?

The HSD17B3 gene belongs to a family of genes called SDR (short chain dehydrogenase/reductase superfamily).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.

How are changes in the HSD17B3 gene related to health conditions?

17-beta hydroxysteroid dehydrogenase 3 deficiency - caused by mutations in the HSD17B3 gene

More than 20 mutations that cause 17-beta hydroxysteroid dehydrogenase 3 deficiency have been identified in the HSD17B3 gene. In the Arab population of Gaza, where the condition is most common, almost all affected individuals have two copies of the same mutation. This mutation replaces the protein building block (amino acid) arginine with the amino acid glutamine at protein position 80 (written as Arg80Gln or R80Q).

Mutations in the HSD17B3 gene result in a 17-beta hydroxysteroid dehydrogenase 3 enzyme with little or no activity, reducing testosterone production. A shortage of testosterone affects the development of the reproductive tract in the male fetus, resulting in the abnormalities in the external sex organs that occur in 17-beta hydroxysteroid dehydrogenase 3 deficiency.

Where is the HSD17B3 gene located?

Cytogenetic Location: 9q22

Molecular Location on chromosome 9: base pairs 96,235,306 to 96,313,983

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBIThis link leads to a site outside Genetics Home Reference.)

The HSD17B3 gene is located on the long (q) arm of chromosome 9 at position 22.

The HSD17B3 gene is located on the long (q) arm of chromosome 9 at position 22.

More precisely, the HSD17B3 gene is located from base pair 96,235,306 to base pair 96,313,983 on chromosome 9.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about HSD17B3?

You and your healthcare professional may find the following resources about HSD17B3 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the HSD17B3 gene or gene products?

  • 17-beta-HSD3
  • EDH17B3
  • estradiol 17 beta-dehydrogenase 3
  • SDR12C2

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding HSD17B3?

amino acid ; arginine ; deficiency ; dehydrogenase ; enzyme ; fetus ; gene ; glutamine ; hormone ; mutation ; population ; precursor ; protein ; sex hormone ; testes ; testosterone

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (8 links)


The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

Reviewed: November 2008
Published: February 8, 2016