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NR5A1

NR5A1

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.

Read more about gene names and symbols on the About page.

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? 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, 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 124,481,231 to 124,507,486

The NR5A1 gene is located on the long (q) arm of chromosome 9 at position 33.

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? 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.

What other names do people use for the NR5A1 gene or gene products?

  • AD4BP
  • adrenal 4 binding protein
  • ELP
  • FTZ1
  • FTZF1
  • fushi tarazu factor homolog 1
  • nuclear receptor AdBP4
  • SF1
  • SF-1
  • steroid hormone receptor Ad4BP
  • steroidogenic factor 1
  • STF1_HUMAN

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding NR5A1?

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.

See also Understanding Medical Terminology.

References (9 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.

 
Reviewed: November 2008
Published: December 16, 2014