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Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®

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 families ( and their member genes.

Genetics Home Reference summarizes the normal function and health implications of these members of the NR gene family: AR, NR0B1, NR3C2, NR5A1, RARA, and VDR.

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:

  • acute promyelocytic leukemia
  • androgenetic alopecia
  • androgen insensitivity syndrome
  • prostate cancer
  • pseudohypoaldosteronism type 1
  • spinal and bulbar muscular atrophy
  • Swyer syndrome
  • vitamin D-dependent rickets
  • X-linked adrenal hypoplasia congenita

Where can I find additional information about the NR gene family?

You may find the following resources about the NR gene family helpful.

  • Nuclear Receptor Resource (

What glossary definitions help with understanding the NR gene family?

androgens ; breakdown ; calcium ; DNA ; domain ; gene ; hormone ; ligand ; metabolism ; nucleus ; receptor ; reproduction ; rickets ; sodium ; transcription

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.


These sources were used to develop the Genetics Home Reference summary for the NR gene family.

  • Biochemistry (fifth edition, 2002): Steroids and Related Hydrophobic Molecules Pass Through Membranes and Bind to DNA-Binding Receptors (
  • Molecular Cell Biology (fourth edition, 2000): Lipid-Soluble Hormones Control the Activities of Nuclear Receptors (
  • Evans RM, Mangelsdorf DJ. Nuclear Receptors, RXR, and the Big Bang. Cell. 2014 Mar 27;157(1):255-66. doi: 10.1016/j.cell.2014.03.012. Review. (
  • Robinson-Rechavi M, Escriva Garcia H, Laudet V. The nuclear receptor superfamily. J Cell Sci. 2003 Feb 15;116(Pt 4):585-6. Review. (
  • Margolis RN, Christakos S. The nuclear receptor superfamily of steroid hormones and vitamin D gene regulation. An update. Ann N Y Acad Sci. 2010 Mar;1192:208-14. doi: 10.1111/j.1749-6632.2009.05227.x. Review. (


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.

Reviewed: August 2014
Published: November 30, 2015