RFTN1

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Description

The RFTN1 (raftlin, lipid raft linker 1) is a protein-coding gene located on chromosome 3.

RFTN1 is involved in protein trafficking by associating with clathrin and the AP2 complex. It mediates the internalization of TLR4 to endosomes in dendritic cells and macrophages upon bacterial lipopolysaccharide stimulation, as well as the internalization of poly(I:C) to TLR3-positive endosomes in myeloid dendritic cells and epithelial cells. This process activates TICAM1-mediated signaling, leading to the production of IFNB1. RFTN1 also plays a role in T-cell antigen receptor-mediated signaling by regulating tyrosine kinase LCK localization, T-cell dependent antibody production and cytokine secretion. It may regulate B-cell antigen receptor-mediated signaling and is potentially involved in the formation and/or maintenance of lipid rafts.

RFTN1 is also known as MIG2, PIB10, PIG9, RAFTLIN.

Associated Diseases

• lysosomal storage disease
• common variable immunodeficiency
• autoimmune lymphoproliferative syndrome
• inborn error of immunity
• immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
• BENTA disease
• isolated agammaglobulinemia
• hyper-IgM syndrome type 3
• autoimmune lymphoproliferative syndrome type 2A
• immunodeficiency 18
• immunodeficiency 62
• immunodeficiency 105
• immunodeficiency 25
• severe combined immunodeficiency due to CARD11 deficiency
• immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
• autoimmune lymphoproliferative syndrome type 4