基因名：
TYROBP
产品别名：
DAP12； KARAP； PLOSL； PLOSL1； TYROBP； transmembrane immune signaling adaptor TYROBP； transmembrane immune signaling adaptor TYROBP； TYRO protein tyrosine kinase-binding protein； DNAX adaptor protein 12； DNAX-activation protein 12； KAR-associated protein； TYRO protein tyrosine kinase binding protein； killer-activating receptor-associated protein； polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy； TYRO蛋白酪氨酸激酶结合蛋白(TYROBP)； 自然杀伤激活受体相关蛋白DAP12；
背景信息：
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]
