这个基因是myc家族的一员,编码一个具有基本螺旋-环-螺旋(bhlh)结构域的蛋白质。这种蛋白位于细胞核内,必须与另一种bhlh蛋白二聚以结合DNA。这种基因的扩增与多种肿瘤有关,尤其是神经母细胞瘤。该基因有多种编码不同亚型的选择性剪接转录变体。
This gene is a member of the MYC family and encodes a protein with a basic helix-loop-helix (bHLH) domain. This protein is located in the nucleus and must dimerize with another bHLH protein in order to bind DNA. Amplification of this gene is associated with a variety of tumors, most notably neuroblastomas. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene.