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Reviewed November 2013
What is the official name of the CYP11B2 gene?
The official name of this gene is “cytochrome P450, family 11, subfamily B, polypeptide 2.”
CYP11B2 is the gene's official symbol. The CYP11B2 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 CYP11B2 gene?
The CYP11B2 gene provides instructions for making an enzyme called aldosterone synthase (previously known as corticosterone methyloxidase). This enzyme is found in the adrenal glands, which are located on top of the kidneys. Aldosterone synthase is a member of the cytochrome P450 family of enzymes. These enzymes are involved in many processes in the body.
Aldosterone synthase helps produce a hormone called aldosterone. Aldosterone helps control blood pressure by maintaining proper salt and fluid levels in the body. The aldosterone synthase enzyme is involved in a series of three chemical reactions that produce aldosterone from other (precursor) molecules: the conversion of 11-deoxycorticosterone to corticosterone, the conversion of corticosterone to 18-hydroxycorticosterone, and the conversion of 18-hydroxycorticosterone to aldosterone.
Does the CYP11B2 gene share characteristics with other genes?
The CYP11B2 gene belongs to a family of genes called CYP (cytochrome P450).
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 CYP11B2 gene related to health conditions?
Where is the CYP11B2 gene located?
Cytogenetic Location: 8q21-q22
Molecular Location on chromosome 8: base pairs 142,910,558 to 142,917,842
The CYP11B2 gene is located on the long (q) arm of chromosome 8 between positions 21 and 22.
More precisely, the CYP11B2 gene is located from base pair 142,910,558 to base pair 142,917,842 on chromosome 8.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about CYP11B2?
You and your healthcare professional may find the following resources about CYP11B2 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 CYP11B2 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
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 CYP11B2?
adrenal glands ; aldosterone ; atrial ; atrial fibrillation ; cardiovascular ; chloride ; cytochrome P450 ; deficiency ; dehydration ; enzyme ; familial ; fibrillation ; gene ; heart failure ; hormone ; hypertension ; ions ; Na ; NaCl ; potassium ; promoter ; promoter region ; sodium ; sodium chloride
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (12 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.