TYROBP antikoerper, DAP12 antikoerper, tyrpbp antikoerper, Karap antikoerper, KARAP antikoerper, PLOSL antikoerper, Ly83 antikoerper, dap12 antikoerper, TYRO protein tyrosine kinase binding protein antikoerper, Tyro protein tyrosine kinase binding protein antikoerper, TYROBP antikoerper, tyrobp antikoerper, Tyrobp antikoerper
Hintergrund
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 70 kDa (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.