該基因編碼核苷酸結合寡聚結構域(nod)樣受體(nlr)家族的一個成員。編碼蛋白作為結合細菌肽聚糖并引發炎癥的模式識別受體(prr)在先天免疫中發揮作用。這種蛋白質也與病毒和寄生蟲感染的免疫反應有關。該蛋白的主要結構特征包括一個n端caspase募集域(card)、一個中心定位的核苷酸結合域(nbd)和其c端的10個富含亮氨酸的串聯重復序列(lrrs)。card參與凋亡信號傳導,lrrs參與蛋白質-蛋白質相互作用,nbd突變可能影響lrr結構域的齊聚過程和隨后的功能。該基因突變與人類哮喘、炎癥性腸病、白塞病和結節病有關[由RefSeq提供,2017年8月]
This gene encodes a member of the nucleotide-binding oligomerization domain (NOD)-like receptor (NLR) family of proteins. The encoded protein plays a role in innate immunity by acting as a pattern-recognition receptor (PRR) that binds bacterial peptidoglycans and initiates inflammation. This protein has also been implicated in the immune response to viral and parasitic infection. Major structural features of this protein include an N-terminal caspase recruitment domain (CARD), a centrally located nucleotide-binding domain (NBD), and 10 tandem leucine-rich repeats (LRRs) in its C terminus. The CARD is involved in apoptotic signaling, LRRs participate in protein-protein interactions, and mutations in the NBD may affect the process of oligomerization and subsequent function of the LRR domain. Mutations in this gene are associated with asthma, inflammatory bowel disease, Behcet disease and sarcoidosis in human patients. [provided by RefSeq, Aug 2017]