NLRP12
NLRP12 is a protein that in humans is encoded by the NLRP12 gene. It is a member of the NOD-like receptor family and plays a crucial role in the regulation of inflammatory pathways and innate immune response.
Function[edit | edit source]
The protein encoded by the NLRP12 gene is a member of the NOD-like receptor family. These proteins are characterized by a nucleotide-binding domain (NBD) and leucine-rich repeat (LRR) region. This protein has been shown to specifically inhibit the activation of NF-kappaB, and consequently, play a role in the regulation of inflammation and the innate immune response.
Clinical significance[edit | edit source]
Mutations in the NLRP12 gene have been associated with hereditary periodic fever syndromes, specifically Familial Cold Autoinflammatory Syndrome 2 (FCAS2). This condition is characterized by episodes of fever, skin rash and joint pain.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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Contributors: Prab R. Tumpati, MD
