检测编号：SS0700176
服务项目
境象生物为您提供HNF1A基因的突变检测服务。
样本要求
新鲜或石蜡包埋的病理组织样本（≥100mg组织）
服务周期
合同签订后30个工作日。
报告结果
服务报告包含检测基因、检出位点、基因型、是否发生突变、突变等位基因频率等结果。
检测方法
测序法
基因信息
| 基因名称 | 基因全名 | 基因位置 | 外显子个数 |
CDS长度 |
| HNF1A |
HNF1 homeobox A |
12q24.2 |
10 |
约3238 bp |
| 基因摘要 |
The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes. The encoded protein functions as a homodimer and binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Defects in this gene are a cause of maturity onset diabetes of the young type 3 (MODY3) and also can result in the appearance of hepatic adenomas. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]. |
相关文献
- Alakus H et al, Genome-wide mutational landscape of mucinous carcinomatosis peritonei of appendiceal origin., Genome medicine;6(5):43, 2014, PubMed Link
- Crompton BD et al, The Genomic Landscape of Pediatric Ewing Sarcoma., Cancer discovery, 2014, PubMed Link
- Giannakis M et al, RNF43 is frequently mutated in colorectal and endometrial cancers., Nature genetics;46(12):1264-6, 2014, PubMed Link
- Kakiuchi M et al, Recurrent gain-of-function mutations of RHOA in diffuse-type gastric carcinoma., Nature genetics;46(6):583-7, 2014, PubMed Link
- Martin D et al, The head and neck cancer cell oncogenome: A platform for the development of precision molecular therapies., Oncotarget, 2014, PubMed Link