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境象生物为您提供PIK3R1基因的突变检测服务。
新鲜或石蜡包埋的病理组织样本(≥100mg组织)
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 |
---|---|---|---|---|
PIK3R1 | phosphoinositide-3-kinase, regulatory subunit 1 (alpha) | 5q13.1 | 10 | 约5675 bp |
基因摘要 | Phosphatidylinositol 3-kinase phosphorylates the inositol ring of phosphatidylinositol at the 3-prime position. The enzyme comprises a 110 kD catalytic subunit and a regulatory subunit of either 85, 55, or 50 kD. This gene encodes the 85 kD regulatory subunit. Phosphatidylinositol 3-kinase plays an important role in the metabolic actions of insulin, and a mutation in this gene has been associated with insulin resistance. Alternative splicing of this gene results in four transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]. |