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complement factor H
This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short concensus 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]
Normal tissues
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|
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|---|---|---|---|
| Femur |
100
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| Great saphenous vein |
97
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| Synovial membrane |
95
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| Vomeronasal organ |
91
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| Bronchus |
89
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| Superior vena cava |
87
|
Compounds
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|---|---|---|---|
| 2-nitrotoluene |
100
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| Bromochloroacetic Ac… |
99
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| Naphthalene |
91
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| Pleiotrophin |
90
|
||
| Brain Derived Neurot… |
84
|
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| Fibroblast Growth Fa… |
84
|
 Individual Studies |
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Homo sapiens
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Mutations/Phenotypic
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CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration.
Authors: Mingyao Li, Pelin Atmaca-Sonmez, Mohammad Othman, Kari E H Branham, Ritu Khanna, Michael S Wade, Yun Li, Liming Liang, Sepideh Zareparsi, Anand Swaroop,…
Nature genetics 2006 Sep -
Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration.
Authors: Julian Maller, Sarah George, Shaun Purcell, Jes Fagerness, David Altshuler, Mark J Daly, Johanna M Seddon
Nature genetics 2006 Sep
Thought leaders and organizations working on research involving CFH.
- Peter F Zipfel
- Rubén Martínez-Barricarte
- Christine Skerka
- Josephine Hoh
- Veronique Fremeaux-Bacchi
- Medical University of Vienna
- National Cancer Institute (NCI)
- Pfizer
- Rudolf Foundation Clinic
- National Eye Institute (NEI)
- Radboud University Nijmegen Medical Centre
- University of Michigan
- Imperial College
- Leibniz Institute for Natural Product Research and Infection Biology
- Massachusetts General Hospital
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Does Complement Factor H Gene Polymorphism Play a Role in the Regulation of Vascular Tone in the Choroid?
conditions: Genetic Polymorphism ; Macular Degeneration ; Regional Blood Flow ; Ocular Physiology
interventions: Squatting
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Does Vascular Endothelial Growth Factor (VEGF) or Complement Factor H Gene Polymorphism Play a Role in the Treatment Success With VEGF Inhibitors in Patients With Choroidal NeoVascularization (CNV)?
conditions: Choroidal Neovascularization ; Age-Related Macular Degeneration
interventions: VEGF genotyping
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HSE Warns Carers As BUPA Lands Fine For Training Failures, UK
Medical News Today. - September 04, 2009 -
Probiodrug gains $54M to back Alzheimer's program
FierceBiotech. - November 02, 2009
