FADD Chromosome 11
Fas associated via death domain
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What This Gene Does
The protein encoded by this gene is an adaptor molecule that interacts with various cell surface receptors and mediates cell apoptotic signals. Through its C-terminal death domain, this protein can be recruited by TNFRSF6/Fas-receptor, tumor necrosis factor receptor, TNFRSF25, and TNFSF10/TRAIL-receptor, and thus it participates in the death signaling initiated by these receptors. Interaction of this protein with the receptors unmasks the N-terminal effector domain of this protein, which allows it to recruit caspase-8, and thereby activate the cysteine protease cascade. Knockout studies in mice also suggest the importance of this protein in early T cell development. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Death effector domain containing|Ripoptosome|Death inducing signaling complex"
Locus Type
gene with protein product
Location
11q13.3
Ensembl
ENSG00000168040
Associated Conditions (2)
FADD-related immunodeficiency
Inborn genetic diseases
Key Variants
RS1194936880
Conflicting classifications of pathogenicity
FADD-related immunodeficiency, Inborn genetic diseases, FADD-related immunodeficiency
Health Risk
RS1392069885
Conflicting classifications of pathogenicity
FADD-related immunodeficiency, FADD-related immunodeficiency
Health Risk
RS146934620
Conflicting classifications of pathogenicity
FADD-related immunodeficiency, FADD-related immunodeficiency
Health Risk
RS369869993
Conflicting classifications of pathogenicity
FADD-related immunodeficiency, FADD-related immunodeficiency
Health Risk
RS387906839
Likely pathogenic
FADD-related immunodeficiency, FADD-related immunodeficiency
Health Risk
RS863224871
Pathogenic
FADD-related immunodeficiency, FADD-related immunodeficiency
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1194936880 | Health Risk | Conflicting classifications of pathogenicity | FADD-related immunodeficiency, Inborn genetic diseases, FADD-related immunodeficiency |
| RS1392069885 | Health Risk | Conflicting classifications of pathogenicity | FADD-related immunodeficiency, FADD-related immunodeficiency |
| RS146934620 | Health Risk | Conflicting classifications of pathogenicity | FADD-related immunodeficiency, FADD-related immunodeficiency |
| RS369869993 | Health Risk | Conflicting classifications of pathogenicity | FADD-related immunodeficiency, FADD-related immunodeficiency |
| RS387906839 | Health Risk | Likely pathogenic | FADD-related immunodeficiency, FADD-related immunodeficiency |
| RS863224871 | Health Risk | Pathogenic | FADD-related immunodeficiency, FADD-related immunodeficiency |