RBCC Red Blood Cell Collection

FADD_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: FADD , MORT1 , GIG3
Protein names and data: FADD_HUMAN , Protein FADD , FAS-associated death domain protein; FAS-associating death domain-containing protein; Growth-inhibiting gene 3 protein; Mediator of receptor induced toxicity Lenght: 208 a.a.
Mass: 23279 Da
fasta formatted sequence
Function: Apoptotic adaptor molecule that recruits caspase-8 or caspase-10 to the activated Fas (CD95) or TNFR-1 receptors. The resulting aggregate called the death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation. Active caspase-8 initiates the subsequent cascade of caspases mediating apoptosis. Involved in interferon-mediated antiviral immune response, playing a role in the positive regulation of interferon signaling.
Disease: ( OMIM: 602457 613759 ) Infections, recurrent, associated with encephalopathy, hepatic dysfunction and cardiovascular malformations (IEHDCM) [MIM:613759]: A condition with biological features of autoimmune lymphoproliferative syndrome such as high-circulating CD4(-)CD8(-)TCR-alpha-beta(+) T-cell counts, and elevated IL10 and FASL levels. Affected individuals suffer from recurrent, stereotypical episodes of fever, encephalopathy, and mild liver dysfunction sometimes accompanied by generalized seizures. The episodes can be triggered by varicella zoster virus (VZV), measles mumps rubella (MMR) attenuated vaccine, parainfluenza virus, and Epstein-Barr virus (EBV). Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue specificity: Expressed in a wide variety of tissues, except for peripheral blood mononuclear leukocytes.

Genetic variants

105 - 105 C -> W (in IEHDCM; reduced folding stability as measured by differential scanning calorimetry of the mutant protein; impairs interaction with FAS). VAR_065124

Database cross-references

UniProt: Q13158
Ensembl: ENST00000301838
MIM: 602457
MIM: 613759
neXtProt: NX_Q13158
Antibodypedia: Q13158 (may not find the protein thus also not any antibody)
Local full text data: click here

Users' comments

Login to add a comment.

© Hegelab and Biomembrane 2013; Powered by TurboGears 2