NLRP1 gene

NLR family pyrin domain containing 1

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).

Genetics Home Reference provides information about autoimmune Addison disease.

Studies have associated 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. This and other 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.

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.

Cytogenetic Location: 17p13.2, which is the short (p) arm of chromosome 17 at position 13.2

Molecular Location: base pairs 5,501,399 to 5,584,512 on chromosome 17 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 17p13.2, which is the short (p) arm of chromosome 17 at position 13.2
  • CARD7
  • CLR17.1
  • DEFCAP
  • DKFZp586O1822
  • KIAA0926
  • NAC
  • NALP1
  • NALP1_HUMAN
  • NLR family, pyrin domain containing 1
  • SLEV1
  • VAMAS1