{"symbol":"TYROBP","synonyms":["DAP12","KARAP","PLOSL"],"name":"TYRO protein tyrosine kinase binding protein","description":"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]","ncbiEntrezGeneId":7305,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/7305","proteins":[{"symbol":"TYOBP_HUMAN","href":"/api/1.0/protein/TYOBP_HUMAN"}],"hgncRootFamilies":[]}