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. Gene Ontology (GO) annotations related to this gene include lipid transporter activity. An important paralog of this gene is CFH.
UniProtKB/Swiss-Prot for CFHR4 Gene
Involved in complement regulation. Can associate with lipoproteins and may play a role in lipid metabolism.