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NLRP1

From SNPedia
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ClinVarNLRP1
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# SNPs11
 Max MagnitudeChromosome positionSummary
rs105751949205,583,798
rs105751949305,583,761
rs105752487605,521,666
rs11579954675,558,964
rs1165127005,521,757
rs1165774705,541,923
rs1215022005,582,047
rs39751469205,583,728
rs650286705,517,008
rs77624501605,558,520
rs807903405,509,041

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.GHR

Mutations in the NLRP1 gene have been associated with several autoimmune diseases (including Addison's disease and multiple sclerosis) as well with malignant melanoma.