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This gene encodes a subunit of the BRCA1-BRCA2-containing complex (BRCC), which is an E3 ubiquitin ligase. This complex plays a role in the DNA damage response, where it is responsible for the stable accumulation of BRCA1 at DNA break sites. The component encoded by this gene can specifically cleave Lys 63-linked polyubiquitin chains, and it regulates the abundance of these polyubiquitin chains in chromatin. The loss of this gene results in abnormal angiogenesis and is associated with syndromic moyamoya, a cerebrovascular angiopathy. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Jun 2011]
[中文简述(自动翻译):]  该基因编码的含BRCA1-BRCA2-络合物(BRCC),这是一种E3泛素连接酶的一个亚基。这种复杂的播放中的DNA损伤的反应,它是负责对BRCA1基因在DNA断裂位点的稳定积聚的作用。由该基因可以特异性切割赖氨酸编码的部件63连接的泛素链,并且它调节染色质这些多聚泛素链的丰度。在异常血管发生该基因的结果,损失与综合征烟雾,脑血管血管病相关联。选择性剪接结果在多个抄本变形。一个相关的假基因已被确定在[由RefSeq的,2011年6月提供] 5号染色体
BRCC3基因(以及对应的蛋白质)的细胞分布位置:
BRCC3基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| MOYAMOYA DISEASE 4 WITH SHORT STATURE, HYPERGONADOTROPIC HYPOGONADISM, AND FACIAL DYSMORPHISM | 0.12 | 0 | 0 | ORPHANET |
| leukemia | 0.000542884 | 2 | 0 | BeFree |
| Moyamoya Disease | 0.000542884 | 2 | 0 | BeFree |
| Mammary Neoplasms | 0.000542884 | 2 | 0 | BeFree |
| Congenital Abnormality | 0.000271442 | 1 | 0 | BeFree |
| Ataxia Telangiectasia | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of breast | 0.000271442 | 1 | 0 | BeFree |
| Glioblastoma | 0.000271442 | 1 | 0 | BeFree |
| Glioma | 0.000271442 | 1 | 0 | BeFree |
| Hemophilia A | 0.000271442 | 1 | 0 | BeFree |
| Vascular Diseases | 0.000271442 | 1 | 0 | BeFree |
| Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Mental handicap | 0.000271442 | 1 | 0 | BeFree |
| Dysmorphism | 0.000271442 | 1 | 0 | BeFree |
| Moyamoya disease 1 | 0.000271442 | 1 | 0 | BeFree |
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