Information on FADD
Alt. symbols: MORT1 | GIG3
Approved name: Fas associated via death domain
Alt. names: Fas (TNFRSF6)-associated via death domain | Fas-associating protein with death domain, Fas-associating death domain-containing protein, mediator of receptor-induced toxicity, growth-inhibiting gene 3 protein
Location: 11q13.3: 70203296 - 70207390 (+)
Gene type: protein_coding, 1 transcripts.
Scores: LoFtool: 0.061800 | pLI: 0.66595290 | LOEUF: 1.277
Gene Ontology (GO)
- Molecular function: caspase binding [GO:0089720]; death receptor binding [GO:0005123]
- Cell component: CD95 death-inducing signaling complex [GO:0031265]; cytoplasm [GO:0005737]
- Biological process: TRAIL-activated apoptotic signaling pathway [GO:0036462]; positive regulation of extrinsic apoptotic signaling pathway [GO:2001238]
Normal function
Dysfunction and disease
Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations [MIM:613759] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
IMD90 |
Immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction | AR |
613759 |
0 (0 fams) |
Please mind that curation (inclusion of all reported patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of FADD
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000301838.5 | 1 | CCDS8196 | Select | protein_coding | 2 | Yes | 1708 | NM_003824 |
Published variants
Found 0 variants
| Var.name ⓘ | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that curation (inclusion of all reported gene variants) has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| 2023 | Uniparental disomy | 37793571 | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in FADD
Please mind that curation (inclusion of all relevant literature) has not started yet. Please contact us if you want to volunteer.
| ID | Year | Title | Journal | PMID | Variants |
|---|