Dec 24, 2024 · CFH (Complement Factor H) is a Protein Coding gene. Diseases associated with CFH include Complement Factor H Deficiency and Hemolytic Uremic Syndrome, Atypical 1. Among its related pathways are Complement cascade and Innate Immune System.

Dec 20, 2023 · The CFH gene is a gene that encodes the protein known as complement factor H (CFH). It is located on chromosome 1 and consists of multiple exons and introns. CFH plays a crucial role in the regulation of the complement system, a part of the immune system that helps to protect the body against infections.

Aug 8, 2023 · Complement factor H (CFH) negatively regulates consumption of complement component 3 (C3), thereby restricting complement activation. Genetic variants in CFH predispose to chronic inflammatory disease. Here, we examined the impact of …

Factor H is a major soluble regulator of the alternative complement pathway, but it can also bind to host cells and tissues, protecting them from complement attack. Interactions of factor H with various endogenous ligands, such as pentraxins, extracellular matrix proteins and DNA are important in limiting local complement-mediated inflammation.

More than 100 mutations in the CFH gene have been identified in people with atypical hemolytic-uremic syndrome, a condition that causes abnormal blood clots (thrombi) to form in small blood vessels in the kidneys. Mutations in this gene increase the risk of a severe form of the disorder that usually appears early in life.

Dec 15, 2013 · Genetic abnormalities within the CFHR gene locus can result in hybrid proteins with affected dimerization or recognition domains which cause defective functions. Here we summarize the recent data about CFHR genes and proteins in order to better understand the role of CFHR proteins in complement activation and in complement associated diseases. 1.

Nov 5, 2009 · Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular degeneration: characterization, ethnic distribution and evolutionary implications.

Complement factor H (CFH), originally known as beta-1H globulin, is a serum glycoprotein that regulates the function of the alternative complement pathway in fluid phase and on cellular surfaces.

Variants in the complement factor H gene (CFH) are associated with age-related macular degeneration (AMD). CFH and five CFH -related genes (CFHR1-5) lie within the regulators of complement activation (RCA) locus on chromosome 1q32.

Jul 10, 2023 · Complement factor H (CFH), a major soluble inhibitor of complement, is a plasma protein that directly interacts with the endothelium of blood vessels. Mutations in the CFH gene lead to diseases associated with excessive angiogenesis; …