Gene: CFHR4

Alternate names for this Gene: CFHL4|FHR-4|FHR4

Gene Summary: 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1q31.3

Description of this Gene: complement factor H related 4

Type of Gene: protein-coding

rs10922147 in CFHR4 gene and Age related macular degeneration PMID 23326517 2013 Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.

PMID 22125219 2011 Sifting the wheat from the chaff: prioritizing GWAS results by identifying consistency across analytical methods.

rs6685931 in CFHR4 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs7367184 in CFHR4 gene and Eczema PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs78239784 in CFHR4 gene and Maculopapular Lesion PMID 29288229 2018 Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients.

rs10922147 in CFHR4 gene and von Willebrand's factor (lab test) PMID 23381943 2013 Ischemic stroke is associated with the ABO locus: the EuroCLOT study.