Gene: LOC105371675
Alternate names for this Gene:
Gene Summary:
Gene is located in Chromosome:
Location in Chromosome :
Description of this Gene:
Type of Gene:
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
rs10801580 in
LOC105371675;CFHR4 gene and
Age related macular degeneration
PMID 23577725 2013 Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.
PMID 21197116 2010 Genome-wide association analyses of genetic, phenotypic, and environmental risks in the age-related eye disease study.
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.