NLRP12

From WikiMD's Wellness Encyclopedia

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]

NLRP12 Resources

Contributors: Prab R. Tumpati, MD