4-470: 2L34 , 2L35 , 4WO1 , 4WOL 7305 22177 ENSG00000011600 ENSMUSG00000030579 O43914 O54885 NM_001173514 NM_001173515 NM_003332 NM_198125 NM_011662 NP_001166985 NP_001166986 NP_003323 NP_937758 NP_035792 TYRO protein tyrosine kinase -binding protein is an adapter protein that in humans is encoded by the TYROBP gene . This gene encodes
8-655: 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 determined. TYROBP has been shown to interact with SIRPB1 . Pathological mutations of
12-449: 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 associated protein kinase 70 kDa ( ZAP-70 ) and spleen tyrosine kinase (SYK) and play
16-541: The TYROBP gene cause polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 , a condition presenting as early-onset dementia . This article on a gene on human chromosome 19 is a stub . You can help Misplaced Pages by expanding it . Protein tyrosine kinase Too Many Requests If you report this error to the Wikimedia System Administrators, please include
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