Reviewed March 2015
What is the official name of the NR5A1 gene?
The official name of this gene is “nuclear receptor subfamily 5 group A member 1.”
NR5A1 is the gene's official symbol. The NR5A1 gene is also known by other names, listed below.
What is the normal function of the NR5A1 gene?
The NR5A1 gene provides instructions for producing a transcription factor called the steroidogenic factor 1. A transcription factor is a protein that attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Steroidogenic factor 1 helps control the activity of several genes related to the development of the gonads (ovaries and testes) and the adrenal glands, which are small glands located on top of each kidney.
Does the NR5A1 gene share characteristics with other genes?
The NR5A1 gene belongs to a family of genes called NR (nuclear hormone receptors).
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.
How are changes in the NR5A1 gene related to health conditions?
- Swyer syndrome - caused by mutations in the NR5A1 gene
NR5A1 gene mutations have been identified in a small number of people with Swyer syndrome, a condition affecting sexual development also known as 46,XY complete gonadal dysgenesis or 46,XY pure gonadal dysgenesis.
People usually have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Girls and women typically have two X chromosomes (46,XX karyotype), while boys and men usually have one X chromosome and one Y chromosome (46,XY karyotype).
Mutations in the NR5A1 gene in people with Swyer syndrome affect the process of sexual differentiation, preventing affected individuals with a 46,XY karyotype from developing male gonads (testes) and causing them to develop female reproductive structures (a uterus and fallopian tubes).
- other disorders - caused by mutations in the NR5A1 gene
NR5A1 gene mutations have been identified in people with 46,XY disorder of sex development, also known as partial gonadal dysgenesis. Affected individuals may have external genitalia that do not look clearly male or clearly female (ambiguous genitalia) or other abnormalities of the genitals and reproductive organs. They may also have abnormalities of the adrenal glands, which produce several hormones that regulate many essential functions in the body. Adrenal gland abnormalities may cause a deficiency of these hormones, resulting in a variety of health problems.
NR5A1 gene mutations that affect gonadal development and function have also been identified in people whose gonads do not produce reproductive cells (eggs or sperm). These conditions, which are called spermatogenic failure in men and premature ovarian failure in women, result in an inability to conceive children (infertility).
Where is the NR5A1 gene located?
Cytogenetic Location: 9q33
Molecular Location on chromosome 9: base pairs 124,481,232 to 124,507,448
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/2516))
The NR5A1 gene is located on the long (q) arm of chromosome 9 at position 33.
More precisely, the NR5A1 gene is located from base pair 124,481,232 to base pair 124,507,448 on chromosome 9.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about NR5A1?
You and your healthcare professional may find the following resources about NR5A1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28NR5A1%5BTIAB%5D%29%20OR%20%28%28ELP%5BTIAB%5D%29%20OR%20%28SF1%5BTIAB%5D%29%20OR%20%28FTZ1%5BTIAB%5D%29%20OR%20%28SF-1%5BTIAB%5D%29%20OR%20%28AD4BP%5BTIAB%5D%29%20OR%20%28FTZF1%5BTIAB%5D%29%20OR%20%28steroidogenic%20factor%201%5BTIAB%5D%29%20OR%20%28adrenal%204%20binding%20protein%5BTIAB%5D%29%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%20720%20days%22%5Bdp%5D)
OMIM - Genetic disorder catalog
- NUCLEAR RECEPTOR SUBFAMILY 5, GROUP A, MEMBER 1 (http://omim.org/entry/184757)
- PREMATURE OVARIAN FAILURE 7 (http://omim.org/entry/612964)
- SPERMATOGENIC FAILURE 8 (http://omim.org/entry/613957)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/NR5A1ID45858ch9q33.html)
- HGNC Gene Family: Nuclear hormone receptors (http://www.genenames.org/cgi-bin/genefamilies/set/71)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=7983)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/2516)
What other names do people use for the NR5A1 gene or gene products?
- adrenal 4 binding protein
- fushi tarazu factor homolog 1
- nuclear receptor AdBP4
- nuclear receptor subfamily 5, group A, member 1
- steroid hormone receptor Ad4BP
- steroidogenic factor 1
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding NR5A1?
adrenal glands ;
reproductive cells ;
sex chromosomes ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Bashamboo A, Ferraz-de-Souza B, Lourenço D, Lin L, Sebire NJ, Montjean D, Bignon-Topalovic J, Mandelbaum J, Siffroi JP, Christin-Maitre S, Radhakrishna U, Rouba H, Ravel C, Seeler J, Achermann JC, McElreavey K. Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1. Am J Hum Genet. 2010 Oct 8;87(4):505-12. doi: 10.1016/j.ajhg.2010.09.009. Erratum in: Am J Hum Genet. 2010 Nov 12;87(5):736. (http://www.ncbi.nlm.nih.gov/pubmed/20887963?dopt=Abstract)
- Gene Review: 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis (http://www.ncbi.nlm.nih.gov/books/NBK1547)
- Köhler B, Lin L, Ferraz-de-Souza B, Wieacker P, Heidemann P, Schröder V, Biebermann H, Schnabel D, Grüters A, Achermann JC. Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency. Hum Mutat. 2008 Jan;29(1):59-64. (http://www.ncbi.nlm.nih.gov/pubmed/17694559?dopt=Abstract)
- Lin L, Philibert P, Ferraz-de-Souza B, Kelberman D, Homfray T, Albanese A, Molini V, Sebire NJ, Einaudi S, Conway GS, Hughes IA, Jameson JL, Sultan C, Dattani MT, Achermann JC. Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function. J Clin Endocrinol Metab. 2007 Mar;92(3):991-9. Epub 2007 Jan 2. (http://www.ncbi.nlm.nih.gov/pubmed/17200175?dopt=Abstract)
- Lourenço D, Brauner R, Lin L, De Perdigo A, Weryha G, Muresan M, Boudjenah R, Guerra-Junior G, Maciel-Guerra AT, Achermann JC, McElreavey K, Bashamboo A. Mutations in NR5A1 associated with ovarian insufficiency. N Engl J Med. 2009 Mar 19;360(12):1200-10. doi: 10.1056/NEJMoa0806228. Epub 2009 Feb 25. (http://www.ncbi.nlm.nih.gov/pubmed/19246354?dopt=Abstract)
- Mallet D, Bretones P, Michel-Calemard L, Dijoud F, David M, Morel Y. Gonadal dysgenesis without adrenal insufficiency in a 46, XY patient heterozygous for the nonsense C16X mutation: a case of SF1 haploinsufficiency. J Clin Endocrinol Metab. 2004 Oct;89(10):4829-32. (http://www.ncbi.nlm.nih.gov/pubmed/15472171?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/2516)
- OMIM: NUCLEAR RECEPTOR SUBFAMILY 5, GROUP A, MEMBER 1 (http://omim.org/entry/184757)
- Ozisik G, Achermann JC, Jameson JL. The role of SF1 in adrenal and reproductive function: insight from naturally occurring mutations in humans. Mol Genet Metab. 2002 Jun;76(2):85-91. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12083805?dopt=Abstract)
- Ozisik G, Achermann JC, Meeks JJ, Jameson JL. SF1 in the development of the adrenal gland and gonads. Horm Res. 2003;59 Suppl 1:94-8. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12566727?dopt=Abstract)
- Reuter AL, Goji K, Bingham NC, Matsuo M, Parker KL. A novel mutation in the accessory DNA-binding domain of human steroidogenic factor 1 causes XY gonadal dysgenesis without adrenal insufficiency. Eur J Endocrinol. 2007 Aug;157(2):233-8. (http://www.ncbi.nlm.nih.gov/pubmed/17656604?dopt=Abstract)
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
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.