更多...
收起
The protein encoded by this gene is expressed only in Langerhans cells which are immature dendritic cells of the epidermis and mucosa. It is localized in the Birbeck granules, organelles present in the cytoplasm of Langerhans cells and consisting of superimposed and zippered membranes. It is a C-type lectin with mannose binding specificity, and it has been proposed that mannose binding by this protein leads to internalization of antigen into Birbeck granules and providing access to a nonclassical antigen-processing pathway. Mutations in this gene result in Birbeck granules deficiency or loss of sugar binding activity. [provided by RefSeq, Aug 2010]
[中文简述(自动翻译):]  由该基因编码的蛋白质仅在朗格汉斯细胞,其是表皮和粘膜的未成熟树突状细胞中表达。它是在Birbeck颗粒局部存在于朗格汉斯细胞的细胞质和由叠加和拉链膜的细胞器。它是一个C型凝集素与甘露糖结合特异性,并且它已经提出,甘露糖通过该蛋白质结合导致抗原进入Birbeck颗粒的内化和提供接入到一个非经典的抗原加工途径。在该基因导致伯贝克突变颗粒缺乏或糖结合活性的丧失。 [由RefSeq的,2010年8月提供]
CD207基因(以及对应的蛋白质)的细胞分布位置:
CD207基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| BIRBECK GRANULE DEFICIENCY | 0.24 | 1 | 1 | CLINVAR_UNIPROT |
| Histiocytosis, Langerhans-Cell | 0.00408156 | 6 | 0 | BeFree_LHGDN |
| Squamous cell carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Inflammatory Bowel Diseases | 0.000271442 | 1 | 1 | BeFree |
| Actinic keratosis | 0.000271442 | 1 | 0 | BeFree |
| Myeloproliferative disease | 0.000271442 | 1 | 0 | BeFree |
| Nasal Polyps | 0.000271442 | 1 | 0 | BeFree |
| Degenerative polyarthritis | 0.000271442 | 1 | 0 | BeFree |
| Post-kala-azar dermal leishmaniasis | 0.000271442 | 1 | 0 | BeFree |
| Idiopathic Inflammatory Myopathies | 0.000271442 | 1 | 0 | BeFree |
| Chronic myeloproliferative disorder | 0.000271442 | 1 | 0 | BeFree |
| Experimental Organism Basal Cell Carcinoma | 0.000271442 | 1 | 0 | BeFree |
忘记密码? 点击找回密码.
扫一扫右方二维码,关注微信订阅号,实时查看信息,关注医学生物学动态。