PIK3R1

磷脂酰肌醇3-激酶在3-主要位置磷酸化磷脂酰肌醇的肌醇环。所述酶包括110 kD催化亚单位和85、55或50 kD调节亚单位。该基因编码85kD调节亚单位。磷脂酰肌醇3激酶在胰岛素的代谢作用中起着重要作用,该基因的突变与胰岛素抵抗有关。这种基因的选择性剪接导致四个转录变体编码不同的亚型。
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.

别名

AGM7,GRB1,IMD36,p85,p85-ALPHA

基因id

Chromosome:5 Start: 67511548 End: 67597649 Strand: 1

药物

突变与药物

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相关基因检测

genes