Entrez 7305 | Ensembl ENSG00000011600 | |
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Aliases TYROBP, DAP12, KARAP, PLOSL, TYRO protein tyrosine kinase binding protein External IDs MGI: 1277211 HomoloGene: 7986 GeneCards: TYROBP |
TYRO protein tyrosine kinase-binding protein is an adapter protein that in humans is encoded by the TYROBP gene.
Contents
Function
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 immunoglobulin-like 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. Two alternative transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described, but their full-length nature has not been deterimined.
Interactions
TYROBP has been shown to interact with SIRPB1.