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Protein Page:
TYROBP (human)

Overview
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. Note: This description may include information from UniProtKB.
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 binding; receptor signaling protein activity
Biological Process: cellular defense response; innate immune response; regulation of immune response; signal transduction
Disease: Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy
Reference #:  O43914 (UniProtKB)
Alt. Names/Synonyms: DAP12; DNAX-activation protein 12; KAR-associated protein; KARAP; killer activating receptor associated protein; Killer-activating receptor-associated protein; PLOSL; TYOBP; TYRO protein tyrosine kinase binding protein; TYRO protein tyrosine kinase-binding protein; TYROBP
Gene Symbols: TYROBP
Molecular weight: 12,179 Da
Basal Isoelectric point: 8.55  Predict pI for various phosphorylation states
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
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TYROBP

Protein Structure Not Found.
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