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NR gene family
Reviewed August 2014
What are the NR genes?
Genes in the NR family provide instructions for making proteins called nuclear hormone receptors. These receptors attach (bind) to certain hormones and allow the body to respond appropriately to them. Hormones regulate a variety of functions throughout the body, such as development, reproduction, and the buildup and breakdown (metabolism) of substances important for the body's function.
Nuclear hormone receptors are generally found in the nucleus of cells. Once associated with the hormone, the receptors bind to specific regions of DNA and regulate the activity of particular genes. Based on this action, nuclear hormone receptors are called transcription factors.
Nuclear hormone receptors have two distinct regions (domains) that allow the receptors to carry out their functions: the ligand-binding domain attaches to the appropriate hormone, and the DNA-binding domain recognizes and binds to specific regions of DNA to control gene activity.
Because of the large number of body processes directed by the many hormones and their receptors, mutations in genes in the NR family can have a variety of effects. Mutations in one member of this family, VDR, block the body's ability to respond to vitamin D, disrupting the balance of calcium in the body and impairing bone development; these genetic changes cause a condition called vitamin D-dependent rickets. Mutations in another gene in the NR family, AR, impair the body's response to male sex hormones called androgens, which can disrupt normal development of the male reproductive system. Other processes affected by mutations of NR genes include regulation of the amount of sodium in the body and maturation of blood cells.
Which genes are included in the NR gene family?
The HUGO Gene Nomenclature Committee (HGNC) provides an index of gene
What conditions are related to genes in the NR gene family?
Genetics Home Reference includes these conditions related to genes in the NR gene family:
Where can I find additional information about the NR gene family?
You may find the following resources about the NR gene family helpful.
Where can I find general information about genes and gene families?
The Handbook provides basic information about genetics in clear language.
What glossary definitions help with understanding the NR gene family?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (5 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.