该基因编码受体酪氨酸激酶蛋白家族的成员。编码的前原蛋白经过蛋白水解处理以生成形成异四聚体受体的 α 和 β 亚基。胰岛素或其他配体与该受体的结合会激活胰岛素信号通路，从而调节葡萄糖的摄取和释放，以及碳水化合物、脂质和蛋白质的合成和储存。该基因的突变是遗传性严重胰岛素抵抗综合征的基础，包括 A 型胰岛素抵抗综合征、Donohue 综合征和 Rabson-Mendenhall 综合征。可变剪接导致多个转录本变体。[RefSeq 提供，2015 年 10 月]

This gene encodes a member of the receptor tyrosine kinase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form a heterotetrameric receptor. Binding of Insulin or other ligands to this receptor activates the Insulin signaling pathway, which regulates glucose uptake and release, as well as the synthesis and storage of carbohydrates, lipids and protein. Mutations in this gene underlie the inherited severe Insulin resistance syndromes including type A Insulin resistance syndrome, Donohue syndrome and Rabson-Mendenhall syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]