FAS
Chr 10Fas cell surface death receptor
Also known as: ALPS1A, APO-1, APT1, CD95, FAS1, FASTM, TNFRSF6
The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains a death domain. It has been shown to play a central role in the physiological regulation of programmed cell death, and has been implicated in the pathogenesis of various malignancies and diseases of the immune system. The interaction of this receptor with its ligand allows the formation of a death-inducing signaling complex that includes Fas-associated death domain protein (FADD), caspase 8, and caspase 10. The autoproteolytic processing of the caspases in the complex triggers a downstream caspase cascade, and leads to apoptosis. This receptor has been also shown to activate NF-kappaB, MAPK3/ERK1, and MAPK8/JNK, and is found to be involved in transducing the proliferating signals in normal diploid fibroblast and T cells. Several alternatively spliced transcript variants have been described, some of which are candidates for nonsense-mediated mRNA decay (NMD). The isoforms lacking the transmembrane domain may negatively regulate the apoptosis mediated by the full length isoform. [provided by RefSeq, Mar 2011]
Primary Disease Associations & Inheritance
Clinical highlights
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
FAS · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Single Intravitreal (IVT) Injection of 4D-150 in Patients With Macular Neovascularization Secondary to Age-Related Macular Degeneration
RECRUITINGAnti-Inflammatory Diet in BRC Patients on Aromatase Inhibitors
RECRUITINGStudy of the ITK Inhibitor Soquelitinib to Reduce Lymphoproliferation and Improve Cytopenias in Autoimmune Lymphoproliferative Syndrome (ALPS)-FAS Patients
RECRUITINGCDH17 CAR-T Therapy in Advanced Malignant Solid Tumors
RECRUITINGTirzepatide Impact Assessment Study
RECRUITINGA Study to Test the Safety and Efficacy of the Drug Larotrectinib for the Treatment of Tumors With NTRK-fusion in Children
ACTIVE NOT RECRUITINGAging Resilience Through Microbiota Optimization and Regulation
ACTIVE NOT RECRUITINGBecotatug Vedotin Combined With Pucotenlimab ± Radiotherapy as First-Line Treatment for Driver-Gene-Negative, EGFR-Expression-Positive Advanced Non-Small Cell Lung Cancer
NOT YET RECRUITINGDaily Light and Sound Stimulation to Improve Brain Functions in Alzheimer's Disease
ACTIVE NOT RECRUITINGDORAvirine Versus DOlutegravir Based Antiretroviral Regimens in Treatment-naïve People Living With HIV-1 Infection
RECRUITINGNeoadjuvant Concomitant Modulated Electro-hyperthermia in HER2-negative Breast Cancer
ACTIVE NOT RECRUITINGGenes, Omega-3 Fatty Acids and Cardiovascular Disease Risk Factors
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools