The human complement factor H: functional roles, genetic variations and disease associations.
Factor H is an essential regulatory protein that plays a critical role in the homeostasis of the complement system in plasma and in the protection of bystander host cells and tissues from damage by complement activation. Genetic and structural data generated during recent years have been instrumental to delineate the functional domains responsible for these regulatory activities in factor H, which is helping to understand the molecular basis underlying the different pathologies associated to factor H. This review summarises our current knowledge of the role of factor H in health and disease.
Rodríguez de Córdoba
Santiago
S
Centro de Investigaciones Biológicas, Departmento de Inmunologia, Ramiro de Maeztu 9, 28040 Madrid, Spain. srdecordoba@cib.csic.es
Esparza-Gordillo
Jorge
J
Goicoechea de Jorge
Elena
E
Lopez-Trascasa
Margarita
M
Sánchez-Corral
Pilar
P
D001419:Bacteria / Q000276:immunology; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D003167:Complement Activation; D017242:Complement Factor H / Q000737:chemistry / Q000235:genetics / Q000502:physiology*; D005796:Genes; D014644:Genetic Variation; D005921:Glomerulonephritis / Q000235:genetics / Q000276:immunology; D006463:Hemolytic-Uremic Syndrome / Q000235:genetics / Q000276:immunology; D006706:Homeostasis; D006801:Humans; D009154:Mutation; D009369:Neoplasms / Q000276:immunology; D011110:Polymorphism, Genetic; D017434:Protein Structure, Tertiary; D013329:Structure-Activity Relationship
C493495:CFH protein, human; D017242:Complement Factor H