Reviewed November 2008
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.
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, also known as 46, XY complete or pure gonadal dysgenesis.
People normally 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. Females typically have two X chromosomes (46,XX), and males ordinarily have one X chromosome and one Y chromosome (46,XY).
Mutations in the NR5A1 gene in people with Swyer syndrome impair the process of male sexual differentiation, causing affected individuals to develop a female appearance despite having the chromosome pattern typical of males.
- 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.
Where is the NR5A1 gene located?
Cytogenetic Location: 9q33
Molecular Location on chromosome 9: base pairs 127,243,514 to 127,269,768
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 127,243,514 to base pair 127,269,768 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=(NR5A1%5BTIAB%5D)%20OR%20((ELP%5BTIAB%5D)%20OR%20(SF1%5BTIAB%5D)%20OR%20(FTZ1%5BTIAB%5D)%20OR%20(SF-1%5BTIAB%5D)%20OR%20(AD4BP%5BTIAB%5D)%20OR%20(FTZF1%5BTIAB%5D)%20OR%20(steroidogenic%20factor%201%5BTIAB%5D)%20OR%20(adrenal%204%20binding%20protein%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%20720%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/184757)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_NR5A1.html)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=2516)
- HUGO Gene Nomenclature Committee (http://www.genenames.org/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
- 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 ;
sex chromosomes ;
You may find definitions for these and many other terms in the Genetics Home Reference
- 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)
- 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.