This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Oct 2011]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| CFH-20-RE | 20 (40 μL) | 200 μL |  |
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| CFH-20-OR | 20 (40 μL) | 200 μL |  |
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| CFH-20-GO | 20 (40 μL) | 200 μL |  |
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| CFH-20-GR | 20 (40 μL) | 200 μL |  |
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| CFH-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Oct 2011]
Gene Symbol : CFH
Gene Name : Complement factor H
Chromosome : CHR 1: 196,651,877-196,747,503
Locus : 1q31.3
Alt. Genes : RCL1
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