FUNCTION: May function as a transcription factor.
SIZE: 464 amino acids; 49561 Da
SUBUNIT: Efficient DNA binding requires dimerization with another bHLH protein. Binds DNA as an heterodimer with MAX. Interacts with KDM5A, KDM5B and HUWE1.
SUBCELLULAR LOCATION: Nucleus.
DEVELOPMENTAL STAGE: Expressed during fetal development.
DISEASE: Amplification of the N-MYC gene is associated with a variety of human tumors, most frequently neuroblastoma, where the level of amplification appears to increase as the tumor progresses.
Defects in MYCN are the cause of Feingold syndrome; also known as oculodigitoesophagoduodenal syndrome (ODED). Feingold syndrome is characterized by variable combinations of esophageal and duodenal atresias, microcephaly, learning disability and limb malformations. Cardiac and renal malformations, vertebral anomalies, and deafness have also been described.
Defects in MYCN are the cause of microcephaly and digital abnormalities with normal intelligence.
SIMILARITY: Contains 1 basic helix-loop-helix (bHLH) domain.