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Reviewed May 2013
What is the official name of the NSD1 gene?
The official name of this gene is “nuclear receptor binding SET domain protein 1.”
NSD1 is the gene's official symbol. The NSD1 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 NSD1 gene?
The NSD1 gene provides instructions for making a protein whose exact function is unknown. This protein is active in many organs and tissues, including the brain, kidney, skeletal muscle, spleen, thymus (a small gland located behind the breastbone), and lung. Researchers believe that the NSD1 protein regulates the activity of certain genes involved in normal growth and development, and can turn genes on or off as needed.
Does the NSD1 gene share characteristics with other genes?
The NSD1 gene belongs to a family of genes called chromatin-modifying enzymes (chromatin-modifying enzymes).
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 NSD1 gene related to health conditions?
Where is the NSD1 gene located?
Cytogenetic Location: 5q35
Molecular Location on chromosome 5: base pairs 176,560,079 to 176,727,213
The NSD1 gene is located on the long (q) arm of chromosome 5 at position 35.
More precisely, the NSD1 gene is located from base pair 176,560,079 to base pair 176,727,213 on chromosome 5.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about NSD1?
You and your healthcare professional may find the following resources about NSD1 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 NSD1 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
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 NSD1?
acute ; acute myeloid leukemia ; cancer ; chromosome ; DNA ; domain ; gene ; histone ; hypotonia ; joint ; kidney ; leukemia ; macroglossia ; methyltransferase ; muscle tone ; mutation ; myeloid ; population ; protein ; rearrangement ; receptor ; skeletal muscle ; syndrome ; thymus ; translocation
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (11 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.