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Reviewed July 2007
What is the official name of the DHCR7 gene?
The official name of this gene is “7-dehydrocholesterol reductase.”
DHCR7 is the gene's official symbol. The DHCR7 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 DHCR7 gene?
The DHCR7 gene provides instructions for making an enzyme called 7-dehydrocholesterol reductase. This enzyme is responsible for the final step in cholesterol production in many types of cells. Specifically, 7-dehydrocholesterol reductase converts a molecule called 7-dehydrocholesterol to cholesterol.
Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals (particularly egg yolks, meat, poultry, fish, and dairy products). It has important functions both before and after birth. Cholesterol plays a critical role in embryonic development by interacting with signaling proteins that control early development of the brain, limbs, genital tract, and other structures. It is also a structural component of cell membranes and myelin, the fatty covering that insulates nerve cells. Additionally, cholesterol is used to make certain hormones and is important for the production of acids used in digestion (bile acids).
How are changes in the DHCR7 gene related to health conditions?
Where is the DHCR7 gene located?
Cytogenetic Location: 11q13.4
Molecular Location on chromosome 11: base pairs 71,434,411 to 71,448,431
The DHCR7 gene is located on the long (q) arm of chromosome 11 at position 13.4.
More precisely, the DHCR7 gene is located from base pair 71,434,411 to base pair 71,448,431 on chromosome 11.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about DHCR7?
You and your healthcare professional may find the following resources about DHCR7 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 DHCR7 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 DHCR7?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (9 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.