CFHR4 Chromosome 1
Complement factor H related 4
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What This Gene Does
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]
Gene Info
Gene Group
"Sushi domain containing|Complement system regulators and receptors"
Locus Type
gene with protein product
Location
1q31.3
Ensembl
ENSG00000134365
Associated Conditions (1)
Kidney disorder
Key Variants
RS115298512
Conflicting classifications of pathogenicity
Health Risk
RS185240845
Conflicting classifications of pathogenicity
Health Risk
RS199731883
Conflicting classifications of pathogenicity
Health Risk
RS200135698
Conflicting classifications of pathogenicity
Health Risk
RS200339924
Conflicting classifications of pathogenicity
Kidney disorder, Kidney disorder
Health Risk
RS200497324
Conflicting classifications of pathogenicity
Health Risk
RS200907976
Conflicting classifications of pathogenicity
Health Risk
RS201727614
Conflicting classifications of pathogenicity
Health Risk
RS373767199
Conflicting classifications of pathogenicity
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS115298512 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS185240845 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199731883 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200135698 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200339924 | Health Risk | Conflicting classifications of pathogenicity | Kidney disorder, Kidney disorder |
| RS200497324 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200907976 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201727614 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS373767199 | Health Risk | Conflicting classifications of pathogenicity | — |