CD27 est un gène codé par le symbole CD27. D'autres noms incluent: CD27 antigenL receptor; T-cell activation antigen T14; Tumor necrosis factor receptor superfamily member 7; TNFRSF7. CD27 a une masse de 29.14kDa, une longueur d'acide aminé de 260, et est impliqué dans Lymphoproliferative syndrome 2.
Nous proposons 4 CD27 protéines
Informations sur les Gènes et les Protéines
Résumé UniProt
Receptor for CD70/CD27L. May play a role in survival of activated T-cells. May play a role in apoptosis through association with SIVA1.
Résumé Entrez
The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is required for generation and long-term maintenance of T cell immunity. It binds to ligand CD70, and plays a key role in regulating B-cell activation and immunoglobulin synthesis. This receptor transduces signals that lead to the activation of NF-kappaB and MAPK8/JNK. Adaptor proteins TRAF2 and TRAF5 have been shown to mediate the signaling process of this receptor. CD27-binding protein (SIVA), a proapoptotic protein, can bind to this receptor and is thought to play an important role in the apoptosis induced by this receptor.
Spécificité tissulaire
Found in most T-lymphocytes.
Implication dans la maladie
Lymphoproliferative syndrome 2: An autosomal recessive immunodeficiency disorder associated with persistent symptomatic EBV viremia, hypogammaglobulinemia, and impaired T-cell-dependent B-cell responses and T-cell dysfunction. The phenotype is highly variable, ranging from asymptomatic borderline-low hypogammaglobulinemia, to a full-blown symptomatic systemic inflammatory response with life-threatening EBV-related complications, including hemophagocytic lymphohistiocytosis, a lymphoproliferative disorder, and malignant lymphoma requiring stem cell transplantation.
Modification post-traductionnelle
Phosphorylated.
Localisation cellulaire
Membrane.
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