更多...
收起
The protein encoded by this gene binds transforming growth factor beta (TGFB) as it is secreted and targeted to the extracellular matrix. TGFB is biologically latent after secretion and insertion into the extracellular matrix, and sheds TGFB and other proteins upon activation. Defects in this gene may be a cause of cutis laxa and severe pulmonary, gastrointestinal, and urinary abnormalities. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]
[中文简述(自动翻译):]  由该基因编码的蛋白结合转化生长因子β(TGFB),因为它被分泌并靶向细胞外基质。 TGFB是分泌和插入外基质后生物潜,并且在活化鸡舍TGFB和其他蛋白质。在这个基因的缺陷可能是皮肤松弛和严重肺,胃肠道,和尿异常的一个原因。三个转录变异体的编码不同亚型也发现了这种基因。[由RefSeq的,2010年5月提供]
LTBP4基因(以及对应的蛋白质)的细胞分布位置:
LTBP4基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities | 0.56 | 1 | 8 | CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT |
| Muscular Dystrophy, Duchenne | 0.120814326 | 3 | 0 | BeFree_ORPHANET |
| PULMONARY DISEASE, CHRONIC OBSTRUCTIVE, SEVERE EARLY-ONSET | 0.08 | 0 | 0 | MGD |
| Colorectal Cancer | 0.002909916 | 2 | 1 | BeFree_GAD |
| Chronic Obstructive Airway Disease | 0.002638474 | 1 | 0 | BeFree_GAD |
| Hyperparathyroidism, Secondary | 0.002367032 | 1 | 0 | GAD |
| Liver Cirrhosis | 0.002367032 | 1 | 0 | GAD |
| Aortic Aneurysm, Abdominal | 0.002367032 | 1 | 0 | GAD |
| Hepatitis C, Chronic | 0.002367032 | 1 | 0 | GAD |
| Adenocarcinoma | 0.000814326 | 3 | 0 | BeFree |
| Aortic Aneurysm | 0.000542884 | 2 | 0 | BeFree |
| Colorectal Carcinoma | 0.000542884 | 2 | 1 | BeFree |
| Muscular Dystrophy | 0.000542884 | 2 | 0 | BeFree |
| Carcinogenesis | 0.000542884 | 2 | 0 | BeFree |
| Mammary Neoplasms | 0.000542884 | 2 | 0 | BeFree |
| Aneurysm | 0.000271442 | 1 | 0 | BeFree |
| Squamous cell carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Esophageal Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| melanoma | 0.000271442 | 1 | 0 | BeFree |
| Myopathy | 0.000271442 | 1 | 0 | BeFree |
| Pulmonary Emphysema | 0.000271442 | 1 | 0 | BeFree |
| Esophageal carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of esophagus | 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。