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.
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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) 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 96,235,305 to 96,302,301
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 96,235,305 to base pair 96,302,301 on chromosome 9.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about HSD17B3?
You and your healthcare professional may find the following resources about HSD17B3 helpful.
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for HSD17B3 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3293%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- OMIM - Genetic disorder catalog (http://omim.org/entry/605573)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_HSD17B3.html)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=3293)
- HGNC Gene Family: Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3 (http://www.genenames.org/genefamilies/SDR)
- HGNC Gene Symbol Report (http://www.genenames.org/data/hgnc_data.php?hgnc_id=5212)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/3293)
What other names do people use for the HSD17B3 gene or gene products?
- estradiol 17 beta-dehydrogenase 3
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding HSD17B3?
amino acid ;
sex hormone ;
You may find definitions for these and many other terms in the Genetics Home Reference
- OMIM: 17-BETA HYDROXYSTEROID DEHYDROGENASE III (http://omim.org/entry/605573)
- Andersson S, Geissler WM, Wu L, Davis DL, Grumbach MM, New MI, Schwarz HP, Blethen SL, Mendonca BB, Bloise W, Witchel SF, Cutler GB Jr, Griffin JE, Wilson JD, Russel DW. Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency. J Clin Endocrinol Metab. 1996 Jan;81(1):130-6. (http://www.ncbi.nlm.nih.gov/pubmed/8550739?dopt=Abstract)
- Boehmer AL, Brinkmann AO, Sandkuijl LA, Halley DJ, Niermeijer MF, Andersson S, de Jong FH, Kayserili H, de Vroede MA, Otten BJ, Rouwé CW, Mendonça BB, Rodrigues C, Bode HH, de Ruiter PE, Delemarre-van de Waal HA, Drop SL. 17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations. J Clin Endocrinol Metab. 1999 Dec;84(12):4713-21. (http://www.ncbi.nlm.nih.gov/pubmed/10599740?dopt=Abstract)
- Faienza MF, Giordani L, Delvecchio M, Cavallo L. Clinical, endocrine, and molecular findings in 17beta-hydroxysteroid dehydrogenase type 3 deficiency. J Endocrinol Invest. 2008 Jan;31(1):85-91. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18296911?dopt=Abstract)
- Lee YS, Kirk JM, Stanhope RG, Johnston DI, Harland S, Auchus RJ, Andersson S, Hughes IA. Phenotypic variability in 17beta-hydroxysteroid dehydrogenase-3 deficiency and diagnostic pitfalls. Clin Endocrinol (Oxf). 2007 Jul;67(1):20-8. Epub 2007 Apr 27. (http://www.ncbi.nlm.nih.gov/pubmed/17466011?dopt=Abstract)
- Margiotti K, Kim E, Pearce CL, Spera E, Novelli G, Reichardt JK. Association of the G289S single nucleotide polymorphism in the HSD17B3 gene with prostate cancer in Italian men. Prostate. 2002 Sep 15;53(1):65-8. (http://www.ncbi.nlm.nih.gov/pubmed/12210481?dopt=Abstract)
- Moghrabi N, Hughes IA, Dunaif A, Andersson S. Deleterious missense mutations and silent polymorphism in the human 17beta-hydroxysteroid dehydrogenase 3 gene (HSD17B3). J Clin Endocrinol Metab. 1998 Aug;83(8):2855-60. (http://www.ncbi.nlm.nih.gov/pubmed/9709959?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/3293)
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
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.