該基因編碼多肽生長因子胰島素家族的一個成員,參與發育和生長。它是一個印記基因,僅從父系等位基因表達,該位點的表觀遺傳變化與Wilms腫瘤、Beckwith-Wiedemann綜合征、橫紋肌肉瘤和Silver-Russell綜合征有關。存在一個通讀的INS-IGF2基因,其5'區與INS基因重疊,3'區與該基因重疊。另外,還發現了編碼不同亞型的剪接轉錄變體。
This gene encodes a member of the insulin family of polypeptide growth factors, which are involved in development and growth. It is an imprinted gene, expressed only from the paternal allele, and epigenetic changes at this locus are associated with Wilms tumour, Beckwith-Wiedemann syndrome, rhabdomyosarcoma, and Silver-Russell syndrome. A read-through INS-IGF2 gene exists, whose 5' region overlaps the INS gene and the 3' region overlaps this gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.