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The protein encoded by this gene belongs to the Kank family of proteins, which contain multiple ankyrin repeat domains. This family member functions in cytoskeleton formation by regulating actin polymerization. This gene is a candidate tumor suppressor for renal cell carcinoma. Mutations in this gene cause cerebral palsy spastic quadriplegic type 2, a central nervous system development disorder. A t(5;9) translocation results in fusion of the platelet-derived growth factor receptor beta gene (PDGFRB) on chromosome 5 with this gene in a myeloproliferative neoplasm featuring severe thrombocythemia. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2014]
[中文简述(自动翻译):]  由该基因编码的蛋白质属于Kank家族蛋白,其包含多个锚蛋白重复域。这家人在细胞骨架形成功能通过调节肌动蛋白聚合。该基因是一个候选抑癌为肾细胞癌。在该基因的突变导致脑瘫痉挛四肢瘫痪,2型,中枢神经系统发育障碍。叔(5; 9)易位导致血小板衍生的生长因子受体β基因(PDGFRB)5号染色体上与该基因的融合在骨髓增殖性疾病具有严重血小板。这个基因的选择性剪接的结果在多个转录变体。一个相关的假基因已被确定在[由RefSeq的,2014年12月提供] 20号染色体
KANK1基因(以及对应的蛋白质)的细胞分布位置:
KANK1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Cerebral Palsy, Spastic Quadriplegic, 2 | 0.24 | 0 | 0 | CLINVAR_CTD_human |
Multiple Sclerosis | 0.004734064 | 2 | 0 | GAD |
Asthma | 0.002367032 | 1 | 1 | GAD |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
Cerebral Palsy | 0.000814326 | 3 | 0 | BeFree |
Malignant neoplasm of breast | 0.000271442 | 1 | 0 | BeFree |
Renal Cell Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Nephrotic Syndrome | 0.000271442 | 1 | 0 | BeFree |
Polycythemia Vera | 0.000271442 | 1 | 0 | BeFree |
Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of kidney | 0.000271442 | 1 | 0 | BeFree |
Thrombocytosis | 0.000271442 | 1 | 0 | BeFree |
Renal carcinoma | 0.000271442 | 1 | 0 | BeFree |
Intracranial glioma | 0.000271442 | 1 | 0 | BeFree |
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