The nlrp1 protein is an intracellular nucleotide-binding domain and leucine-rich repeat containing family receptor (nlr) that localizes to the cytoplasm. It contains a pyrin domain, a nucleotide-bindin...[+]

The nlrp1 protein is an intracellular nucleotide-binding domain and leucine-rich repeat containing family receptor (nlr) that localizes to the cytoplasm. It contains a pyrin domain, a nucleotide-binding site domain, and a leucine-rich repeat region. Expression has been detected in the skin, liver, spleen, intestine, lung, and heart during development and in adult stages. [-]

          VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1; VAMAS1
          AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD