TYROBP

TYROBP

TYRO protein tyrosine kinase binding protein, also known as TYROBP, is a human gene.

PBB_Summary
section_title =
summary_text = 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. 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.cite web | title = Entrez Gene: TYROBP TYRO protein tyrosine kinase binding protein| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7305| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Colonna M |title=DAP12 signaling: from immune cells to bone modeling and brain myelination. |journal=J. Clin. Invest. |volume=111 |issue= 3 |pages= 313–4 |year= 2003 |pmid= 12569153 |doi=
*cite journal | author=Takaki R, Watson SR, Lanier LL |title=DAP12: an adapter protein with dual functionality. |journal=Immunol. Rev. |volume=214 |issue= |pages= 118–29 |year= 2007 |pmid= 17100880 |doi= 10.1111/j.1600-065X.2006.00466.x
*cite journal | author=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=
*cite journal | author=Pekkarinen P, Hovatta I, Hakola P, "et al." |title=Assignment of the locus for PLO-SL, a frontal-lobe dementia with bone cysts, to 19q13. |journal=Am. J. Hum. Genet. |volume=62 |issue= 2 |pages= 362–72 |year= 1998 |pmid= 9463329 |doi=
*cite journal | author=Lanier LL, Corliss BC, Wu J, "et al." |title=Immunoreceptor DAP12 bearing a tyrosine-based activation motif is involved in activating NK cells. |journal=Nature |volume=391 |issue= 6668 |pages= 703–7 |year= 1998 |pmid= 9490415 |doi= 10.1038/35642
*cite journal | author=Lanier LL, Corliss B, Wu J, Phillips JH |title=Association of DAP12 with activating CD94/NKG2C NK cell receptors. |journal=Immunity |volume=8 |issue= 6 |pages= 693–701 |year= 1998 |pmid= 9655483 |doi=
*cite journal | author=Pekkarinen P, Kestilä M, Paloneva J, "et al." |title=Fine-scale mapping of a novel dementia gene, PLOSL, by linkage disequilibrium. |journal=Genomics |volume=54 |issue= 2 |pages= 307–15 |year= 1999 |pmid= 9828133 |doi=
*cite journal | author=Cantoni C, Bottino C, Vitale M, "et al." |title=NKp44, a triggering receptor involved in tumor cell lysis by activated human natural killer cells, is a novel member of the immunoglobulin superfamily. |journal=J. Exp. Med. |volume=189 |issue= 5 |pages= 787–96 |year= 1999 |pmid= 10049942 |doi=
*cite journal | author=Bellón T, Heredia AB, Llano M, "et al." |title=Triggering of effector functions on a CD8+ T cell clone upon the aggregation of an activatory CD94/kp39 heterodimer. |journal=J. Immunol. |volume=162 |issue= 7 |pages= 3996–4002 |year= 1999 |pmid= 10201920 |doi=
*cite journal | author=Bakker AB, Baker E, Sutherland GR, "et al." |title=Myeloid DAP12-associating lectin (MDL)-1 is a cell surface receptor involved in the activation of myeloid cells. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=96 |issue= 17 |pages= 9792–6 |year= 1999 |pmid= 10449773 |doi=
*cite journal | author=Dietrich J, Cella M, Seiffert M, "et al." |title=Cutting edge: signal-regulatory protein beta 1 is a DAP12-associated activating receptor expressed in myeloid cells. |journal=J. Immunol. |volume=164 |issue= 1 |pages= 9–12 |year= 2000 |pmid= 10604985 |doi=
*cite journal | author=Bouchon A, Dietrich J, Colonna M |title=Cutting edge: inflammatory responses can be triggered by TREM-1, a novel receptor expressed on neutrophils and monocytes. |journal=J. Immunol. |volume=164 |issue= 10 |pages= 4991–5 |year= 2000 |pmid= 10799849 |doi=
*cite journal | author=Paloneva J, Kestilä M, Wu J, "et al." |title=Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts. |journal=Nat. Genet. |volume=25 |issue= 3 |pages= 357–61 |year= 2000 |pmid= 10888890 |doi= 10.1038/77153
*cite journal | author=Tomasello E, Cant C, Bühring HJ, "et al." |title=Association of signal-regulatory proteins beta with KARAP/DAP-12. |journal=Eur. J. Immunol. |volume=30 |issue= 8 |pages= 2147–56 |year= 2000 |pmid= 10940905 |doi=
*cite journal | author=Bottino C, Falco M, Sivori S, "et al." |title=Identification and molecular characterization of a natural mutant of the p50.2/KIR2DS2 activating NK receptor that fails to mediate NK cell triggering. |journal=Eur. J. Immunol. |volume=30 |issue= 12 |pages= 3569–74 |year= 2001 |pmid= 11169398 |doi=
*cite journal | author=Gingras MC, Lapillonne H, Margolin JF |title=TREM-1, MDL-1, and DAP12 expression is associated with a mature stage of myeloid development. |journal=Mol. Immunol. |volume=38 |issue= 11 |pages= 817–24 |year= 2002 |pmid= 11922939 |doi=
*cite journal | author=Paloneva J, Manninen T, Christman G, "et al." |title=Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype. |journal=Am. J. Hum. Genet. |volume=71 |issue= 3 |pages= 656–62 |year= 2002 |pmid= 12080485 |doi=
*cite journal | author=Lucas M, Daniel L, Tomasello E, "et al." |title=Massive inflammatory syndrome and lymphocytic immunodeficiency in KARAP/DAP12-transgenic mice. |journal=Eur. J. Immunol. |volume=32 |issue= 9 |pages= 2653–63 |year= 2002 |pmid= 12207350 |doi= 10.1002/1521-4141(200209)32:9<2653::AID-IMMU2653>3.0.CO;2-V |doilabel=10.1002/1521-4141(200209)32:92653::AID-IMMU26533.0.CO;2-V
*cite journal | author=Kondo T, Takahashi K, Kohara N, "et al." |title=Heterogeneity of presenile dementia with bone cysts (Nasu-Hakola disease): three genetic forms. |journal=Neurology |volume=59 |issue= 7 |pages= 1105–7 |year= 2002 |pmid= 12370476 |doi=
*cite journal | author=Gilfillan S, Ho EL, Cella M, "et al." |title=NKG2D recruits two distinct adapters to trigger NK cell activation and costimulation. |journal=Nat. Immunol. |volume=3 |issue= 12 |pages= 1150–5 |year= 2002 |pmid= 12426564 |doi= 10.1038/ni857

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  • Maladie De Nasu-Hakola — Autre nom Ostéodysplasie polykystique lipomembraneuse avec leucoencéphalopathie sclérosante Référence MIM …   Wikipédia en Français

  • Maladie de Nasu-Hakola — Référence MIM 221770 Transmission Récessive Chromosome 6p21.1 19q13.1 Gène TREM2 TYROBP Mutation Ponctuelle …   Wikipédia en Français

  • Maladie de nasu-hakola — Autre nom Ostéodysplasie polykystique lipomembraneuse avec leucoencéphalopathie sclérosante Référence MIM …   Wikipédia en Français

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