TYROBP Antibody – Rabbit Polyclonal

This gene encodes a transmembrane signaling polypeptide which contains an immunoreceptor tyrosine-based activation motif (ITAM) in its cytoplasmic domain. The encoded protein may associate with the killer-cell inhibitory receptor (KIR) family of membrane glycoproteins and may act as an activating signal transduction element. This protein may bind zeta-chain (TCR) associated protein kinase 70kDa (ZAP-70) and spleen tyrosine kinase (SYK) and play a role in signal transduction, bone modeling, brain myelination, and inflammation. Mutations within this gene have been associated with polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease. Its putative receptor, triggering receptor expressed on myeloid cells 2 (TREM2), also causes PLOSL. Multiple alternative transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Mar 2010]

TYROBP: Non-covalently associates with activating receptors of the CD300 family. Cross-linking of CD300-TYROBP complexes results in cellular activation. Involved for instance in neutrophil activation mediated by integrin. Defects in TYROBP are a cause of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL); also called 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. Belongs to the TYROBP family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Cell surface; Membrane protein, integral

Chromosomal Location of Human Ortholog: 19q13.1

Cellular Component: cell surface; integral to plasma membrane; plasma membrane

Molecular Function: identical protein binding; protein binding; receptor signaling protein activity; receptor binding

Biological Process: integrin-mediated signaling pathway; axon guidance; regulation of immune response; neutrophil activation during immune response; macrophage activation during immune response; innate immune response; cellular defense response; signal transduction

Disease: Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy