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One can interpret the CH50 value along with the individual's complement factor values to help determine the etiology. For example, if and individual has normal C3/C4 values but a decreased CH50, that can indicate a terminal complement pathway deficiency while if one has low C3 and CH50 values that can indicate an autoimmune condition such as ...
The size of either C4A or C4B gene can be 21 kb (long, L) or 14.6 kb (short, S). Also, the long C4 gene uniquely contains a retrovirus HERV-K(C4) in its intron 9 that imposes transcription of an extra 6.36 kb, hence the “longer” string of gene. [2] [14] Thus, C4 genes have a complex pattern of variation in gene size, copy number, and ...
C4: C4 deficiency is highly associated with systemic lupus erythematosus. [3] Aβ42, a protein involved in Alzheimer's disease, can cause activation of C4 (even in plasma deficient of C1q). [18] At least one study indicates that the genetic variation of C4 plays a role in schizophrenia. [19]
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Obesity in turn results in an abnormally high level of complement activation via production of the C1 component of the classical pathway, which can lead to tissue inflammation and eventually insulin resistance, however the exact mechanisms that causes this is yet unknown. [8]
12268 Ensembl ENSG00000244207 ENSG00000206340 ENSG00000244731 ENSG00000227746 ENSMUSG00000073418 UniProt P0C0L4 P01029 RefSeq (mRNA) NM_001252204 NM_007293 NM_009780 RefSeq (protein) NP_001239133 NP_009224 NP_033910 Location (UCSC) Chr 6: 31.98 – 32 Mb Chr 17: 34.95 – 34.96 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Complement C4-A is a kind of the Complement component 4 ...