IL1RA ist ein Gen, das durch das Symbol IL1RN kodiert wird. Im Allgemeinen auch bezeichnet als: Interleukin-1 receptor antagonist protein; IL-1RN; ICIL-1RA; IL1 inhibitor; IL1RN; IL1F3. IL1RA hat eine Masse von 20.06kDa, eine Aminosäurelänge von 177, und ist an folgenden Krankheiten beteiligt: Microvascular complications of diabetes 4; Interleukin 1 receptor antagonist deficiency.
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Gen- und Proteininformationen
UniProt Zusammenfassung
Inhibits the activity of interleukin-1 by binding to receptor IL1R1 and preventing its association with the coreceptor IL1RAP for signaling. Has no interleukin-1 like activity. Binds functional interleukin-1 receptor IL1R1 with greater affinity than decoy receptor IL1R2; however, the physiological relevance of the latter association is unsure.
Entrez Zusammenfassung
The protein encoded by this gene is a member of the interleukin 1 cytokine family. This protein inhibits the activities of interleukin 1, alpha (IL1A) and interleukin 1, beta (IL1B), and modulates a variety of interleukin 1 related immune and inflammatory responses. This gene and five other closely related cytokine genes form a gene cluster spanning approximately 400 kb on chromosome 2. A polymorphism of this gene is reported to be associated with increased risk of osteoporotic fractures and gastric cancer. Several alternatively spliced transcript variants encoding distinct isoforms have been reported.
Gewebespezifität
The intracellular form of IL1RN is predominantly expressed in epithelial cells.
Rolle bei Krankheiten
Microvascular complications of diabetes 4: Pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis.
Interleukin 1 receptor antagonist deficiency: A rare autoinflammatory disease of skin and bone resulting in sterile multifocal osteomyelitis, periostitis, and pustulosis from birth. The term autoinflammatory disease describes a group of disorders characterized by attacks of seemingly unprovoked inflammation without significant levels of autoantibodies and autoreactive T-cells.
