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Reviewed December 2010
What is the official name of the NLRP1 gene?
The official name of this gene is “NLR family, pyrin domain containing 1.”
NLRP1 is the gene's official symbol. The NLRP1 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 NLRP1 gene?
The NLRP1 gene provides instructions for making a member of a family of proteins called nucleotide-binding domain and leucine-rich repeat containing (NLR) proteins. These proteins are involved in the immune system, helping to regulate the process of inflammation. Inflammation occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight microbial invaders and facilitate tissue repair. The body then stops (inhibits) the inflammatory response to prevent damage to its own cells and tissues.
The NLRP1 protein is involved in the assembly of a molecular complex called an inflammasome, which helps trigger the inflammatory process in response to the presence of bacteria or viruses. Researchers believe that the NLRP1 protein may also play a role in the self-destruction of cells (apoptosis).
Does the NLRP1 gene share characteristics with other genes?
The NLRP1 gene belongs to a family of genes called NLR (nucleotide-binding domain and leucine rich repeat containing family).
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 NLRP1 gene related to health conditions?
Genetics Home Reference provides information about autoimmune Addison disease, which is also associated with changes in the NLRP1 gene.
Where is the NLRP1 gene located?
Cytogenetic Location: 17p13.2
Molecular Location on chromosome 17: base pairs 5,501,398 to 5,584,511
The NLRP1 gene is located on the short (p) arm of chromosome 17 at position 13.2.
More precisely, the NLRP1 gene is located from base pair 5,501,398 to base pair 5,584,511 on chromosome 17.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about NLRP1?
You and your healthcare professional may find the following resources about NLRP1 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 NLRP1 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 NLRP1?
adrenal glands ; amino acid ; apoptosis ; autoimmune ; bacteria ; diabetes ; domain ; gene ; histidine ; hormone ; immune system ; inflammation ; injury ; insulin ; kidney ; leucine ; melanocytes ; nucleotide ; pancreas ; pigment ; pigmentation ; promoter ; promoter region ; protein ; protein sequence ; tissue ; white blood cells
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (10 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.