CFHR5
Encyclopedia
Complement factor H-related protein 5 is a protein
that in humans is encoded by the CFHR5 gene
.
which plays an important role in the regulation of a branch of the innate immune system called the alternative complement pathway
. Like complement factor H, CFHR5 is able to bind to complement C3.
, which is a common cause of renal disease in Cyprus
. The mutated form of the protein found in patients with this disease has impaired ability to bind to complement C3, suggesting that CFHR5 is important in protecting the kidneys from attack by the complement system
.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
that in humans is encoded by the CFHR5 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
Function
CFHR5 is structurally related to complement factor HFactor H
Factor H is a member of the regulators of complement activation family and is a complement control protein. It is a large , soluble glycoprotein that circulates in human plasma...
which plays an important role in the regulation of a branch of the innate immune system called the alternative complement pathway
Alternative complement pathway
The alternative pathway of the complement system is an innate component of the immune system's natural defense against infections, which can operate without antibody participation....
. Like complement factor H, CFHR5 is able to bind to complement C3.
Clinical Significance
A mutation in CHFR5 was found in patients with the disease CFHR5 nephropathyCFHR5 nephropathy
Complement factor H-related protein 5 nephropathy is a form of inherited kidney disease which is endemic in Cyprus and is caused by a mutation in the gene CFHR5...
, which is a common cause of renal disease in Cyprus
Cyprus
Cyprus , officially the Republic of Cyprus , is a Eurasian island country, member of the European Union, in the Eastern Mediterranean, east of Greece, south of Turkey, west of Syria and north of Egypt. It is the third largest island in the Mediterranean Sea.The earliest known human activity on the...
. The mutated form of the protein found in patients with this disease has impaired ability to bind to complement C3, suggesting that CFHR5 is important in protecting the kidneys from attack by the complement system
Complement system
The complement system helps or “complements” the ability of antibodies and phagocytic cells to clear pathogens from an organism. It is part of the immune system called the innate immune system that is not adaptable and does not change over the course of an individual's lifetime...
.