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貨期:
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用途:
For Research Use Only. Not for use in diagnostic or therapeutic procedures.
Involved in the regulation of innate immune response. Acts as negative regulator of Toll-like receptor and interferon-regulatory factor (IRF) signaling pathways. Contributes to the negative regulation of transcriptional activation of NF-kappa-B target genes in response to endogenous proinflammatory stimuli.
基因功能參考文獻:
genetic association studies in a population of black women in South Africa: Data suggest that an SNP in NFKBIL1 (rs2071592) is associated with iron status/iron-deficiency anemia in the population studied. PMID: 25809685
These observations suggest a functional involvement of IkappaBL in the regulation of alternative splicing in both human and viral genes, which is a novel link of HLA locus to the regulation of immunity and infection in humans. PMID: 23953137
an association was noted between IKBL-62T and idiopathic inflammatory myopathy, with increased risk noted in anti-Jo-1- and -PM-Scl antibody-positive patients; the IKBL-62T association is dependent on TNF-308A and HLA-B*08, due to strong shared linkage disequilibrium between these alleles PMID: 22210660
results do not provide evidence for the association between the -62A/T NFKBIL1 polymorphism and obsessive-compulsive disorder in this Brazilian sample. PMID: 19578685
Results of the present study do not provide evidence for the association between the NFKBIL1 exon 4 polymorphism and MS predisposition in the investigated Polish population. PMID: 20568399
The DPB1 gene controlled the severity of the vascular lesion, whereas the IKBL gene (NFKBIL1) was associated with a relatively mild phenotype. PMID: 19165231
identifed the second rheumatoid arthritis -susceptibility locus within the HLA region, as the T allele of SNP 96452 (T/A), in the promoter region (position -62) of the I kappa BL gene (P=.0062) PMID: 12509789
study shows that the estimated haplotype IkBL -421 8T/-62 T tends to be associated with susceptibility to rheumatoid arthritis in Taiwan PMID: 16644022
no association between polymorphisms and hypertension, myocardial infarct and angina in Irish PMID: 17485095
Minor homozygous genotypes of polymorphisms in NFKBIL1 were associated with moderately protective effects against myocardial infarction. PMID: 17517687
The IKBL locus itself or another critical gene in this region may confer susceptibility to the development of chronic Chagas cardiomyopathy. PMID: 17544510
IL1RN VNTR and the IKBL + 738T > C gene polymorphisms are not risk factors for myocardial infarct in Caucasians with type 2 diabetes PMID: 17847930
A potential role for NFkBL1 in the pathogenesis of rheumatoid arthritis and in mRNA processing or the regulation of translation. PMID: 17855452
IkappaBL allele polymorphisms influences risk of acquiring systemic lupus erythematosus and Sjogren's syndrome. PMID: 18295675
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相關(guān)疾病:
Rheumatoid arthritis (RA)
亞細胞定位:
Nucleus. Note=Nuclear localization with a speckled expression pattern in some cells. Colocalizes with CACTIN in the nucleus.
組織特異性:
Detected in different cell types including monocytes, T-cells, B-cells and hepatocytes.