菜单 基因医生

该基因编码一种含一个嘧啶结构域、一个核苷酸结合位点（NBS）结构域和一个富含亮氨酸重复序列（LRR）基序的类嘧啶蛋白该蛋白与凋亡相关斑点样蛋白PYCARD/ASC相互作用，后者包含caspase募集结构域，是NALP3炎症复合物的成员该复合物作为NF-kappaB信号传导的上游激活物，在炎症、免疫反应和细胞凋亡的调节中发挥作用该基因突变与家族性冷性自身炎症综合征（FCAS）、黏液井综合征（MWS）、慢性婴儿神经性皮肤和关节（CINCA）综合征和新生儿多系统炎性疾病（NOMID）有关已鉴定出编码不同亚型的多个选择性剪接转录变体可获得的数据表明了替代5’UTR结构；但是，没有足够的证据来确定所代表的5’UTR剪接模式是否在生物学上有效[由RefSeq提供，2008年10月]
This gene encodes a pyrin-like protein containing a pyrin domain, a nucleotide-binding site (NBS) domain, and a leucine-rich repeat (LRR) motif. This protein interacts with the apoptosis-associated speck-like protein PYCARD/ASC, which contains a caspase recruitment domain, and is a member of the NALP3 inflammasome complex. This complex functions as an upstream activator of NF-kappaB signaling, and it plays a role in the regulation of inflammation, the immune response, and apoptosis. Mutations in this gene are associated with familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), chronic infantile neurological cutaneous and articular (CINCA) syndrome, and neonatal-onset multisystem inflammatory disease (NOMID). Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Alternative 5' UTR structures are suggested by available data; however, insufficient evidence is available to determine if all of the represented 5' UTR splice patterns are biologically valid. [provided by RefSeq, Oct 2008]