CFD Chromosome 19
Complement factor D
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What This Gene Does
This gene encodes a member of the S1, or chymotrypsin, family of serine peptidases. This protease catalyzes the cleavage of factor B, the rate-limiting step of the alternative pathway of complement activation. This protein also functions as an adipokine, a cell signaling protein secreted by adipocytes, which regulates insulin secretion in mice. Mutations in this gene underlie complement factor D deficiency, which is associated with recurrent bacterial meningitis infections in human patients. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature protease. [provided by RefSeq, Nov 2015]
Gene Info
Gene Group
"Granule associated serine proteases of immune defence|Complement system activation components"
Locus Type
gene with protein product
Location
19p13.3
Ensembl
ENSG00000197766
Associated Conditions (1)
Recurrent Neisseria infections due to factor D deficiency
Key Variants
RS147192616
Conflicting classifications of pathogenicity
Health Risk
RS758829036
Conflicting classifications of pathogenicity
Health Risk
RS1021715434
Likely pathogenic
Recurrent Neisseria infections due to factor D deficiency, Recurrent Neisseria infections due to factor D deficiency
Health Risk
RS1175245492
Likely pathogenic
Health Risk
RS2512177578
Likely pathogenic
Health Risk
RS780270249
Likely pathogenic
Recurrent Neisseria infections due to factor D deficiency, Recurrent Neisseria infections due to factor D deficiency
Health Risk
RS104894667
Pathogenic
Recurrent Neisseria infections due to factor D deficiency, Recurrent Neisseria infections due to factor D deficiency
Health Risk
RS1290545249
Pathogenic
Health Risk
RS1475552802
Pathogenic
Health Risk
RS752800376
Pathogenic
Recurrent Neisseria infections due to factor D deficiency, Recurrent Neisseria infections due to factor D deficiency
Health Risk
RS918406652
Pathogenic
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS147192616 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS758829036 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1021715434 | Health Risk | Likely pathogenic | Recurrent Neisseria infections due to factor D deficiency, Recurrent Neisseria infections due to factor D deficiency |
| RS1175245492 | Health Risk | Likely pathogenic | — |
| RS2512177578 | Health Risk | Likely pathogenic | — |
| RS780270249 | Health Risk | Likely pathogenic | Recurrent Neisseria infections due to factor D deficiency, Recurrent Neisseria infections due to factor D deficiency |
| RS104894667 | Health Risk | Pathogenic | Recurrent Neisseria infections due to factor D deficiency, Recurrent Neisseria infections due to factor D deficiency |
| RS1290545249 | Health Risk | Pathogenic | — |
| RS1475552802 | Health Risk | Pathogenic | — |
| RS752800376 | Health Risk | Pathogenic | Recurrent Neisseria infections due to factor D deficiency, Recurrent Neisseria infections due to factor D deficiency |
| RS918406652 | Health Risk | Pathogenic | — |