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Complement component C4 (C4) is a highly variable complement pathway gene situated ∼500 kb from DRB1 and DQB1, the genes most strongly associated with many autoimmune diseases. Variations in C4 copy number (CN), length, and isotype create a highly diverse gene cluster in which insertion of an endogenous retrovirus in the ninth intron of C4.
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The human complement C4 gene (C4A and C4B genes) locus is located in the highly polymorphic major histocompatibility complex (MHC) class III gene region on chromosome 6, which could be a short form (C4S, 14.6 kb) or a long form (C4L, 21 kb), depending on the absence or the presence of the 6.36 kb endogenous retroviral sequence HERV-K(C4) in.
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The fourth component of complement (C4) is coded for by two tandem-duplicated genes located in the class III region of the MHC of humans as well as a number of primates. A C4 gene size polymorphism giving rise to two gene variants of 16 and 22.3 kb length can be attributed to a complete endogenous r.
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C4 genes may be short (14.6 kb) or long (21 kb), due to the absence or presence of an endogenous retroviral sequence-HERV-K (C4)-in intron 9, respectively. The C4 gene copy number (GCN) can vary from 1-3 per haplotype or 2-6 per diploid genome. The variation in GCN leads to a range of C4 plasma protein concentrations among healthy subjects.
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3 min read. A complement C4 (also known as a complement component 4, or simply C4) is a test to measure the level of C4 proteins you have in your blood. These proteins play a role in how your.
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C4.4A expression level correlated with in vivo efficacy, the most responsive being the models with C4.4A expression in over 50% of the cells. In the NCI-H292 NSCLC model, C4.4A-ADC demonstrated equal or superior efficacy compared to cisplatin, paclitaxel, and vinorelbine. Furthermore, an additive antitumor efficacy in combination with cisplatin.
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This HERV-K(C4) deficiency is not surprising given previous observations of C4A deficiency in type 1 diabetes and that 95% of C4A genes have the HERV-K(C4) insertion (11-15). However, HERV-K(C4) is the variant with the greatest difference in median CN and greatest significance (2.3 copies, P = 4.59 × 10 7 ), whereas the difference in C4A is.
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Between the two sequences for the endogenous retrovirus HERV-K(C4) in intron 9, there are 14 SNPs and three single-nucleotide indels. The sequences that determine the C4A and C4B reactivity, the serological properties such as the Rg and Ch determinants, and most of the polymorphic amino acid residues in human C4A and C4B clustered at the C4d.