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

Gene: LOC105371675

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

rs10494745 in CFHR4;LOC105371675 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 20861866 2010 Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration.

rs4915559 in CFHR4;LOC105371675 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs4915559 in CFHR4;LOC105371675 gene and Coagulation factor measurement PMID 23381943 2013 Ischemic stroke is associated with the ABO locus: the EuroCLOT study.

rs10494745 in CFHR4;LOC105371675 gene and Hemopexin measurement PMID 28240269 2017 Connecting genetic risk to disease end points through the human blood plasma proteome.

rs4915559 in CFHR4;LOC105371675 gene and von Willebrand's factor (lab test) PMID 23381943 2013 Ischemic stroke is associated with the ABO locus: the EuroCLOT study.