TYROBP

{{for|zeta-chain|T-cell surface glycoprotein CD3 zeta chain}}

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 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. 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.{{cite web | title = Entrez Gene: TYROBP TYRO protein tyrosine kinase binding protein| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7305}}

TYROBP has been shown to interact with SIRPB1.{{cite journal | vauthors = Dietrich J, Cella M, Seiffert M, Bühring HJ, Colonna M | 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 | date = January 2000 | pmid = 10604985 | doi = 10.4049/jimmunol.164.1.9 | doi-access = free }}{{cite journal | vauthors = Tomasello E, Cant C, Bühring HJ, Vély F, André P, Seiffert M, Ullrich A, Vivier E | title = Association of signal-regulatory proteins beta with KARAP/DAP-12 | journal = Eur. J. Immunol. | volume = 30 | issue = 8 | pages = 2147–56 | date = August 2000 | pmid = 10940905 | doi = 10.1002/1521-4141(2000)30:8<2147::AID-IMMU2147>3.0.CO;2-1 | s2cid = 84258013 | doi-access = }}

Pathological mutations of the TYROBP gene cause polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, a condition presenting as early-onset dementia.

{{Reflist}}

• [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=plosl GeneReviews/NIH/NCBI/UW entry on Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL)]

{{Refbegin | 2}}

• {{cite journal | vauthors = 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 | pmc = 151875 | doi = 10.1172/JCI17745 }}
• {{cite journal | vauthors = Takaki R, Watson SR, Lanier LL | title = DAP12: an adapter protein with dual functionality | journal = Immunol. Rev. | volume = 214 | pages = 118–29 | year = 2007 | pmid = 17100880 | doi = 10.1111/j.1600-065X.2006.00466.x | s2cid = 12937527 }}
• {{cite journal | vauthors = 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 = 10.1101/gr.6.9.791 | doi-access = free }}
• {{cite journal | vauthors = Pekkarinen P, Hovatta I, Hakola P, Järvi O, Kestilä M, Lenkkeri U, Adolfsson R, Holmgren G, Nylander PO, Tranebjaerg L, Terwilliger JD, Lönnqvist J, Peltonen L | 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 | pmc = 1376898 | doi = 10.1086/301722 }}
• {{cite journal | vauthors = 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 = 10.1016/S1074-7613(00)80574-9 | doi-access = free }}
• {{cite journal | vauthors = Pekkarinen P, Kestilä M, Paloneva J, Terwillign J, Varilo T, Järvi O, Hakola P, Peltonen L | 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 = 10.1006/geno.1998.5591 | doi-access = free }}
• {{cite journal | vauthors = Cantoni C, Bottino C, Vitale M, Pessino A, Augugliaro R, Malaspina A, Parolini S, Moretta L, Moretta A, Biassoni R | 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 | pmc = 2192947 | doi = 10.1084/jem.189.5.787 }}
• {{cite journal | vauthors = Bellón T, Heredia AB, Llano M, Minguela A, Rodriguez A, López-Botet M, Aparicio P | 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 | doi = 10.4049/jimmunol.162.7.3996 | pmid = 10201920 | doi-access = free }}
• {{cite journal | vauthors = Bakker AB, Baker E, Sutherland GR, Phillips JH, Lanier LL |authorlink3=Grant Robert Sutherland | 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 | pmc = 22289 | doi = 10.1073/pnas.96.17.9792 |bibcode=1999PNAS...96.9792B | doi-access = free }}
• {{cite journal | vauthors = Dietrich J, Cella M, Seiffert M, Bühring HJ, Colonna M | 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 = 10.4049/jimmunol.164.1.9 | doi-access = free }}
• {{cite journal | vauthors = 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 = 10.4049/jimmunol.164.10.4991 | doi-access = free }}
• {{cite journal | vauthors = Tomasello E, Cant C, Bühring HJ, Vély F, André P, Seiffert M, Ullrich A, Vivier E | 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 = 10.1002/1521-4141(2000)30:8<2147::AID-IMMU2147>3.0.CO;2-1 | s2cid = 84258013 | doi-access = }}
• {{cite journal | vauthors = Bottino C, Falco M, Sivori S, Moretta L, Moretta A, Biassoni R | 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 = 10.1002/1521-4141(200012)30:12<3569::AID-IMMU3569>3.0.CO;2-E | doi-access = free }}
• {{cite journal | vauthors = 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 = 10.1016/S0161-5890(02)00004-4 }}
• {{cite journal | vauthors = Paloneva J, Manninen T, Christman G, Hovanes K, Mandelin J, Adolfsson R, Bianchin M, Bird T, Miranda R, Salmaggi A, Tranebjaerg L, Konttinen Y, Peltonen L | 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 | pmc = 379202 | doi = 10.1086/342259 }}
• {{cite journal | vauthors = Lucas M, Daniel L, Tomasello E, Guia S, Horschowski N, Aoki N, Figarella-Branger D, Gomez S, Vivier E | 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 | doi-access = free }}
• {{cite journal | vauthors = Kondo T, Takahashi K, Kohara N, Takahashi Y, Hayashi S, Takahashi H, Matsuo H, Yamazaki M, Inoue K, Miyamoto K, Yamamura T | 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 = 10.1212/wnl.59.7.1105 | s2cid = 36364470 }}
• {{cite journal | vauthors = Gilfillan S, Ho EL, Cella M, Yokoyama WM, Colonna M | 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 | s2cid = 5859797 | url = https://zenodo.org/record/1059076 }}

{{Refend}}

{{gene-19-stub}}