Disease:Genetic variation in TLR5 is associated with resistance to systemic lupus erythematosus type 1 (SLEB1) [MIM:601744]. Systemic lupus erythematosus (SLE) is a chronic autoimmune disease with a complex genetic basis. SLE is an inflammatory, and often febrile multisystemic disorder of connective tissue characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. It is thought to represent a failure of the regulatory mechanisms of the autoimmune system.,Function:Participates in the innate immune response to microbial agents. Mediates detection of bacterial flagellins. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response.,polymorphism:Individuals with a common stop codon polymorphism in position 392 are unable to mediate flagellin signaling. This polymorphism acts in a dominant fashion and is associated with susceptibility to pneumonia caused by Legionella pneumophila [MIM:608556]. It also provides protection against systemic lupus erythematosus.,similarity:Belongs to the Toll-like receptor family.,similarity:Contains 1 TIR domain.,similarity:Contains 15 LRR (leucine-rich) repeats.,subunit:Binds MYD88 via their respective TIR domains.,tissue specificity:Highly expressed in ovary and in peripheral blood leukocytes, especially in monocytes, less in CD11c+ immature dendritic cells. Also detected in prostate and testis.,
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