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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.
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).
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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
NLRP1 gene variations have been associated with an increased risk of autoimmune disorders. Autoimmune disorders occur when the immune system malfunctions and attacks the body's tissues and organs. These disorders include type 1 diabetes, in which insulin-producing cells in the pancreas are destroyed, and Addison disease, which is caused by autoimmune damage to the small hormone-producing glands on top of each kidney (adrenal glands). Certain NLRP1 gene variations seem to make affected individuals more prone to overactivity of the immune system, resulting in damage to the body's own tissues and organs.
Studies have associated at least two variations in the NLRP1 gene with an increased risk of vitiligo, an autoimmune condition that results in patchy changes in skin coloring (pigmentation).
One of the NLRP1 gene variations associated with vitiligo changes the protein building block (amino acid) leucine to the amino acid histidine at position 155 in the NLRP1 protein sequence, written as Leu155His or L155H. Another variation affects an area of the gene called a promoter region, which controls the production of the NLRP1 protein.
These variations likely affect the activity of the NLRP1 protein, making it more difficult for the body to control inflammation and prevent the immune system from attacking its own tissues. While the pigment loss associated with vitiligo results from the immune system attacking pigment-producing cells (melanocytes) in the skin, it is unclear what specific circumstances trigger the immune system to do so. The condition probably results from a combination of genetic and environmental factors, most of which have not been identified.
Cytogenetic Location: 17p13.2
Molecular Location on chromosome 17: base pairs 5,404,718 to 5,487,831
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 5,404,718 to base pair 5,487,831 on chromosome 17.
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 NLRP1 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 ; amino acid ; apoptosis ; autoimmune ; bacteria ; diabetes ; domain ; gene ; 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 (http://www.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.