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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, Mar 2010]
[中文简述(自动翻译):]  该基因编码含有在其胞质结构域中包含免疫受体基于酪氨酸的活化基序(ITAM)的跨膜信号多肽。所编码的蛋白质可与杀伤细胞抑制性受体(KIR)家族的膜糖蛋白的关联,并且可以作为活化的信号转导元件起作用。这种蛋白质可结合泽塔链(TCR)相关的蛋白激酶的70kDa(ZAP-70)和脾酪氨酸激酶(SYK),并起到信号转导,骨造型,脑髓鞘和炎症的作用。该基因内突变已与硬化性白质脑病(PLOSL),也被称为那须Hakola疾病多囊卵巢lipomembranous osteodysplasia相关联。其公认的受体,触发受体骨髓细胞2(TREM2)表示,也导致PLOSL。编码不同亚型多重替代转录变异体已经确定了这个基因。 [由RefSeq的,2010年3月提供]
TYROBP基因(以及对应的蛋白质)的细胞分布位置:
TYROBP基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY | 0.442985861 | 11 | 5 | BeFree_CLINVAR_CTD_human_MGD_ORPHANET |
| IGA Glomerulonephritis | 0.12 | 1 | 0 | CTD_human |
| Liver diseases | 0.12 | 1 | 0 | CTD_human |
| Inflammation | 0.00272435 | 1 | 0 | LHGDN |
| Malignant neoplasm of ovary | 0.002367032 | 1 | 0 | GAD |
| Presenile dementia | 0.001628651 | 6 | 0 | BeFree |
| Bone Cysts | 0.001085767 | 4 | 0 | BeFree |
| Dementia | 0.000814326 | 3 | 0 | BeFree |
| Rheumatoid Arthritis | 0.000542884 | 2 | 0 | BeFree |
| Schizophrenia | 0.000542884 | 2 | 0 | BeFree |
| Leukoencephalopathies | 0.000542884 | 2 | 0 | BeFree |
| Osteodysplasia | 0.000542884 | 2 | 0 | BeFree |
| Autoimmune Diseases | 0.000271442 | 1 | 0 | BeFree |
| Mental disorders | 0.000271442 | 1 | 0 | BeFree |
| Demyelinating Diseases | 0.000271442 | 1 | 0 | BeFree |
| Ischemia | 0.000271442 | 1 | 0 | BeFree |
| Kidney Diseases | 0.000271442 | 1 | 0 | BeFree |
| Lupus Erythematosus, Systemic | 0.000271442 | 1 | 0 | BeFree |
| oligodendroglioma | 0.000271442 | 1 | 0 | BeFree |
| Ureteral obstruction | 0.000271442 | 1 | 0 | BeFree |
| Obstructive nephropathy | 0.000271442 | 1 | 0 | BeFree |
| Lung infiltration | 0.000271442 | 1 | 0 | BeFree |
| Pilocytic Astrocytoma | 0.000271442 | 1 | 0 | BeFree |
| Well Differentiated Oligodendroglioma | 0.000271442 | 1 | 0 | BeFree |
| Leukemia, Large Granular Lymphocytic | 0.000271442 | 1 | 0 | BeFree |
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