NALP3

NALP3, also known as NALP3, is a protein that in humans is encoded by the NALP3 gene. This gene is located on chromosome 17q21.3. NALP3 is a member of the NALP (NACHT, LRR and PYD) family of proteins, which are involved in the regulation of inflammation and cell death. NALP3 is primarily expressed in immune cells, such as macrophages and dendritic cells, and plays a crucial role in the activation of the inflammasome, a multiprotein complex that activates caspase-1 and leads to the maturation of pro-inflammatory cytokines like IL-1β and IL-18.

Mutations in the NALP3 gene have been associated with various inflammatory disorders, including familial Mediterranean fever (FMF), Muckle-Wells syndrome, and chronic inflammatory demyelinating polyneuropathy (CIDP). FMF is an autosomal recessive disorder characterized by recurrent episodes of fever and inflammation, often triggered by infection or physical stress. Muckle-Wells syndrome is a rare autosomal recessive disorder that presents with recurrent episodes of fever, abdominal pain, and arthritis. CIDP is a chronic autoimmune disorder that affects the peripheral nerves, leading to progressive weakness and sensory loss.

The exact mechanism by which NALP3 mutations cause these disorders is not fully understood, but it is believed to involve the dysregulation of the inflammasome and the subsequent overproduction of pro-inflammatory cytokines. Research into the NALP3 protein and its role in inflammation is ongoing, with the aim of developing new therapeutic strategies for the treatment of inflammatory disorders.