|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
The official name of this gene is “hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2.”
HSD3B2 is the gene's official symbol. The HSD3B2 gene is also known by other names, listed below.
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.
The HSD3B2 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.
At least 37 mutations in the HSD3B2 gene have been found to cause 3β-HSD deficiency. Most of these mutations change single protein building blocks (amino acids) in the 3β-HSD enzyme, which typically reduces the activity of the enzyme. Mutations that allow the production of some functional enzyme, although at reduced levels, cause the less severe, non-salt-wasting or non-classic forms of 3β-HSD deficiency. Other mutations result in the production of an abnormally short, completely nonfunctional 3β-HSD enzyme, which causes the more severe, salt-wasting form of this condition. All types of 3β-HSD deficiency interfere with the production of a variety of hormones and lead to abnormalities of sexual development and maturation.
Cytogenetic Location: 1p13.1
Molecular Location on chromosome 1: base pairs 119,957,553 to 119,965,661
The HSD3B2 gene is located on the short (p) arm of chromosome 1 at position 13.1.
More precisely, the HSD3B2 gene is located from base pair 119,957,553 to base pair 119,965,661 on chromosome 1.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about HSD3B2 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
acids ; adrenal glands ; aldosterone ; androgens ; deficiency ; dehydrogenase ; enzyme ; gene ; hormone ; inflammation ; kidney ; protein ; reproduction ; stress ; testes ; wasting
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).
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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.