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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.
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.
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.
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.
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.
Cytogenetic Location: 9q33
Molecular Location on chromosome 9: base pairs 124,481,231 to 124,507,486
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 124,481,231 to base pair 124,507,486 on chromosome 9.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
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.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
adrenal glands ; cell ; chromosome ; deficiency ; differentiation ; DNA ; dysgenesis ; gene ; genitalia ; genitals ; hormone ; kidney ; protein ; receptor ; sex chromosomes ; syndrome ; testes ; transcription ; transcription factor
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.