TREM2 Recombinant Protein

This gene encodes a membrane protein that forms a receptor signaling complex with the TYRO protein tyrosine kinase binding protein. The encoded protein functions in immune response and may be involved in chronic inflammation by triggering the production of constitutive inflammatory cytokines. Defects in this gene are a cause of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2012]

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

Chromosomal Location of Human Ortholog: 6p21.1

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

Molecular Function: peptidoglycan binding; lipopolysaccharide binding; receptor activity

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

Disease: Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy