Nlrp3 - NLR family, pyrin domain containing 3 Gene

中文名称：NLR 家族，含 pyrin 结构域 3

种属: Mus musculus

同用名: FCU; MWS; FCAS; Cias1; Mmig1; NALP3; Pypaf1; AII/AVP; AGTAVPRL

关于 Nlrp3

功能概要

该基因编码的蛋白可启动 DNA 结合转录因子结合活性和序列特异性 DNA 结合活性。参与多个过程，包括 T 辅助细胞分化的正调节；细胞因子产生的正调节；和对细菌的反应。作用于多个过程的上游或内部，包括 NLRP3 炎性体复合物组装；激活参与细胞凋亡过程的半胱氨酸型内肽酶活性；和对病毒的防御反应。位于细胞质和细胞核中。 NLRP3 炎性复合体的一部分。在中枢神经系统和视网膜中表达。用于研究CINCA综合征；家族性寒冷自身炎症综合征 1；和非酒精性脂肪肝。该基因的人类直系同源物与 CINCA 综合征有关； Muckle-Wells 综合症；常染色体显性非综合征性耳聋 34；家族性寒冷自身炎症综合征 1；和荨麻疹。与人类 NLRP3 同源（NLR 家族 pyrin 结构域包含 3）。 [由基因组资源联盟提供，2022 年 4 月]

Enables DNA-binding transcription factor binding activity and sequence-specific DNA binding activity. Involved in several processes, including positive regulation of T-helper cell differentiation; positive regulation of cytokine production; and response to bacterium. Acts upstream of or within several processes, including NLRP3 inflammasome complex assembly; activation of cysteine-type endopeptidase activity involved in apoptotic process; and defense response to virus. Located in cytoplasm and nucleus. Part of NLRP3 inflammasome complex. Is expressed in central nervous system and retina. Used to study CINCA Syndrome; familial cold autoinflammatory syndrome 1; and non-alcoholic fatty liver disease. Human ortholog(s) of this gene implicated in CINCA Syndrome; Muckle-Wells syndrome; autosomal dominant nonsyndromic deafness 34; familial cold autoinflammatory syndrome 1; and urticaria. Orthologous to human NLRP3 (NLR family pyrin domain containing 3). [provided by Alliance of Genome Resources, Apr 2022]