UniProtSummary | FUNCTION:Mayfunctionasatranscriptionfactor. SIZE:464aminoacids;49561Da SUBUNIT:EfficientDNAbindingrequiresdimerizationwithanotherbHLHprotein.BindsDNAasanheterodimerwithMAX.InteractswithKDM5A,KDM5BandHUWE1. SUBCELLULARLOCATION:Nucleus. DEVELOPMENTALSTAGE:Expressedduringfetaldevelopment. DISEASE:AmplificationoftheN-MYCgeneisassociatedwithavarietyofhumantumors,mostfrequentlyneuroblastoma,wherethelevelofamplificationappearstoincreaseasthetumorprogresses. DefectsinMYCNarethecauseofFeingoldsyndrome;alsoknownasoculodigitoesophagoduodenalsyndrome(ODED).Feingoldsyndromeischaracterizedbyvariablecombinationsofesophagealandduodenalatresias,microcephaly,learningdisABIlityandlimbmalformations.Cardiacandrenalmalformations,vertebralanomalies,anddeafnesshavealsobeendescribed. DefectsinMYCNarethecauseofmicrocephalyanddigitalabnormalitieswithnormalintelligence. SIMILARITY:Contains1basichelix-loop-helix(bHLH)domain. |