| Entrez gene ID | | 7305 |
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| Official gene symbol | | TYROBP |
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| Full name | | TYRO protein tyrosine kinase binding protein |
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| Aliases | | ,DAP12,KARAP,PLOSL, |
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| Gene summary | | 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] |
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| Location | | Chromosome: 19 Locus: 19q13.1 |
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| Gene position | | 36399211 - 36395303 Map Viewer |
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| Gene orientation | | minus |
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| Gene size | | 3909 bp |
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| Gene sequence |
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| OMIM ID | | 604142 |
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