Aliases for CFHR4 Gene
External Ids for CFHR4 Gene
Previous HGNC Symbols for CFHR4 Gene
Previous GeneCards Identifiers for CFHR4 Gene
This gene is a member of the complement factor H (CFH) gene family, and encodes one of the 5 CFH-related (CFHR) proteins. These 5 genes are closely linked to the CFH gene on chromosome 1q31-q32. The CFHRs are secreted plasma proteins synthesized primarily by the hepatocytes, and composed of highly-related short consensus repeats (SCRs). This protein enhances the cofactor activity of CFH, and is involved in complement regulation. It can associate with lipoproteins and may play a role in lipid metabolism. Alternatively spliced transcript variants encoding different isoforms (varying in the number of SCRs) have been described for this gene. [provided by RefSeq, Jan 2011]
GeneCards Summary for CFHR4 Gene
CFHR4 (Complement Factor H Related 4) is a Protein Coding gene. Diseases associated with CFHR4 include Hemolytic Uremic Syndrome, Atypical 1 and Hemolytic-Uremic Syndrome. Among its related pathways are Complement and coagulation cascades. Gene Ontology (GO) annotations related to this gene include lipid transporter activity. An important paralog of this gene is CFHR3.
UniProtKB/Swiss-Prot Summary for CFHR4 Gene
Involved in complement regulation. Can associate with lipoproteins and may play a role in lipid metabolism.