NLRP14
Human gene encoding a protein involved in the immune response
NLRP14 (NLR family pyrin domain containing 14) is a gene that encodes a protein involved in the immune response. This gene is a member of the NOD-like receptor (NLR) family, which plays a crucial role in the regulation of inflammation and apoptosis.
Function[edit | edit source]
The NLRP14 protein is part of the innate immune system and is involved in the body's first line of defense against pathogens. It is known to interact with other proteins in the NLR family to form multiprotein complexes called inflammasomes. These inflammasomes are responsible for the activation of caspase-1, which in turn leads to the processing and secretion of pro-inflammatory cytokines such as IL-1β and IL-18.
Structure[edit | edit source]
NLRP14 contains several important domains:
- An N-terminal pyrin domain (PYD)
- A central nucleotide-binding domain (NBD)
- C-terminal leucine-rich repeats (LRRs)
These domains are essential for the protein's ability to detect pathogenic microorganisms and initiate an immune response.
Clinical Significance[edit | edit source]
Mutations in the NLRP14 gene have been associated with various autoimmune diseases and inflammatory disorders. Research is ongoing to better understand the specific mechanisms by which NLRP14 mutations contribute to these conditions.
Expression[edit | edit source]
NLRP14 is expressed in various tissues, with higher expression levels observed in the testis and ovary. This suggests a potential role in reproductive biology and fertility.
Related Genes[edit | edit source]
NLRP14 is part of a larger family of NLR genes, which includes:
See Also[edit | edit source]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD