NLRP9
Description
The NLRP9 (NLR family pyrin domain containing 9) is a protein-coding gene located on chromosome 19.
NLRP9, short for NOD-like receptor family pyrin domain containing 9, is an intracellular protein found in the ovaries, testes, oocytes, and preimplantation embryos of mammals. It is likely involved in reproductive processes. Also known as NALP9, NOD6, PAN12, and CLR19.1, NLRP9 is one of 14 pyrin domain containing members of the NOD-like receptor family of cytoplasmic receptors.
NLRP9 is a sensor component of the NLRP9 inflammasome, a protein complex crucial for innate immunity and inflammation. Upon detection of pathogens, such as rotavirus, NLRP9 initiates the assembly of the inflammasome, a complex composed of NLRP9, PYCARD, and CASP1. The recruitment of proCASP1 to the inflammasome promotes its activation. Activated CASP1 then processes IL1B and IL18 precursors, leading to the release of mature cytokines, which trigger inflammatory responses. Additionally, inflammasomes can induce pyroptosis, a form of programmed cell death. NLRP9 inflammasome activation can be initiated by the interaction of DHX9 with viral double-stranded RNA (dsRNA), particularly short dsRNA segments.
NLRP9 is also known as CLR19.1, NALP9, NOD6, PAN12.
Associated Diseases
- congenital sucrase-isomaltase deficiency
- diarrhea-vomiting due to trehalase deficiency
- recurrent infections associated with rare immunoglobulin isotypes deficiency
- immunodeficiency due to a classical component pathway complement deficiency
- glycoprotein storage disease
- hemoglobin H disease
- hemoglobin C-beta-thalassemia syndrome
- dominant beta-thalassemia
- spermatogenic failure, X-linked, 2
- combined immunodeficiency due to OX40 deficiency
- idiopathic hypereosinophilic syndrome
- chronic diarrhea due to glucoamylase deficiency
- cancer
