TREM2 Antibody – Rabbit Polyclonal

The protein encoded by this gene is part of the immunoglobulin and lectin-like superfamily and functions as part of the innate immune system. This gene forms part of a cluster of genes on mouse chromosome 17 thought to be involved in innate immunity. This protein associates with the adaptor protein Dap-12 and recruits several factors, such as kinases and phospholipase C-gamma, to form a receptor signaling complex that activates myeloid cells, including dendritic cells and microglia. In humans homozygous loss-of-function mutations in this gene cause Nasu-Hakola disease and mutations in this gene may be risk factors to the development of Alzheimer's disease. In mouse mutations of this gene serve as a pathophysiological model for polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (Nasu-Hakola disease) and for inflammatory bowel disease. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jan 2013]

TREM2: May have a role in chronic inflammations and may stimulate production of constitutive rather than inflammatory chemokines and cytokines. Forms a receptor signaling complex with TYROBP and triggers activation of the immune responses in macrophages and dendritic cells. Defects in TREM2 are a cause of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL); also known as presenile dementia with bone cysts or Nasu-Hakola disease (NHD). PLOSL is a recessively inherited disease characterized by a combination of psychotic symptoms rapidly progressing to presenile dementia and bone cysts restricted to wrists and ankles. PLOSL has a global distribution, although most of the patients have been diagnosed in Finland and Japan, with an estimated population prevalence of 2x10(-6) in the Finns. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral

Cellular Component: extracellular region; integral to membrane; intracellular membrane-bound organelle; membrane; plasma membrane

Molecular Function: lipopolysaccharide binding; peptidoglycan binding; protein binding; transmembrane receptor activity

Biological Process: detection of lipopolysaccharide; detection of peptidoglycan; innate immune response; lipopolysaccharide-mediated signaling pathway; phagocytosis, engulfment; positive regulation of antigen processing and presentation of peptide antigen via MHC class II; positive regulation of calcium-mediated signaling; positive regulation of peptidyl-tyrosine phosphorylation