breast cancer（乳腺癌） |
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境象生物为您提供PTEN基因的突变检测服务。
唾液（2ml以上）、全血（2ml以上）
合同签订后30个工作日。
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。
测序法
| 基因名称 | 基因全名 | 基因位置 | 外显子个数 | CDS长度 |
|---|---|---|---|---|
| PTEN | phosphatase and tensin homolog | 10q23.3 | 9 | 约8816 bp |
| 基因摘要 | This gene was identified as a tumor suppressor that is mutated in a large number of cancers at high frequency. The protein encoded by this gene is a phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase. It contains a tensin like domain as well as a catalytic domain similar to that of the dual specificity protein tyrosine phosphatases. Unlike most of the protein tyrosine phosphatases, this protein preferentially dephosphorylates phosphoinositide substrates. It negatively regulates intracellular levels of phosphatidylinositol-3,4,5-trisphosphate in cells and functions as a tumor suppressor by negatively regulating AKT/PKB signaling pathway. The use of a non-canonical (CUG) upstream initiation site produces a longer isoform that initiates translation with a leucine, and is thought to be preferentially associated with the mitochondrial inner membrane. This longer isoform may help regulate energy metabolism in the mitochondria. A pseudogene of this gene is found on chromosome 9. Alternative splicing and the use of multiple translation start codons results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]. | |||